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Genes:
AAK1, ABCA12, ABCB11, ABCB6, ABCG8, ABHD1, AC008271.1, AC012493.2, AC017028.1, AC017104.2, AC062017.1, AC079354.1, AC079612.1, AC104667.3, AC104809.3, AC112715.2, AC131097.4, ACADL, ACP1, ACTR1B, ACVR1, ACVR1C, ACVR2A, ACYP2, ADAM17, ADCY3, ADI1, ADRA2B, AFF3, AGAP1, AGBL5, AGFG1, ALK, ALLC, ALMS1, ALPP, ALPPL2, ALS2, ALS2CR11, AMER3, ANAPC1, ANKAR, ANKRD36, ANKRD36C, ANKRD53, ANO7, APOB, AQP12A, AQP12B, ARHGAP15, ARHGAP25, ARHGEF33, ARHGEF4, ARMC9, ASAP2, ASB1, ASB18, ASIC4, ASNSD1, ASPRV1, ASTL, ASXL2, ATAD2B, ATG4B, ATG9A, ATIC, ATOH8, ATP5G3, ATP6V1B1, ATP6V1C2, ATRAID, AUP1, BARD1, BAZ2B, BCL11A, BCL2L11, BIRC6, BMPR2, C1D, C1QL2, C2orf16, C2orf43, C2orf54, C2orf57, C2orf62, C2orf69, C2orf70, C2orf71, C2orf73, C2orf76, C2orf80, C2orf82, C2orf83, C2orf88, CAD, CALCRL, CAPG, CAPN10, CAPN13, CAPN14, CASP10, CASP8, CCDC104, CCDC108, CCDC138, CCDC141, CCDC148, CCDC150, CCDC74A, CCDC74B, CCDC85A, CCDC88A, CCDC93, CCNT2, CCT7, CD207, CD8B, CDCA7, CDKL4, CEBPZ, CENPA, CEP68, CERKL, CFLAR, CGREF1, CHCHD5, CHPF, CHRND, CHST10, CKAP2L, CLHC1, CLIP4, CMPK2, CNPPD1, CNRIP1, CNTNAP5, COBLL1, COL3A1, COL4A3, COL5A2, COL6A3, COMMD1, CPO, CPS1, CREG2, CRIM1, CRYGB, CRYGD, CSRNP3, CTDSP1, CTNNA2, CWC22, CXXC11, CYBRD1, CYP1B1, CYP20A1, CYP26B1, CYP27C1, D2HGDH, DAPL1, DAW1, DBI, DCDC2C, DDX1, DDX18, DES, DHX57, DIRC3, DNAH6, DNAH7, DNAJC10, DNAJC27, DNER, DNMT3A, DNPEP, DOCK10, DPP10, DPP4, DPYSL5, DRC1, DTYMK, DYNC2LI1, DYSF, ECEL1, EDAR, EIF2AK3, EIF5B, ELMOD3, EMILIN1, EML4, EML6, EMX1, EPB41L5, EPHA4, EPT1, ERICH2, ERLEC1, ESPNL, ETAA1, EVA1A, EXOC6B, FABP1, FAHD2B, FAM110C, FAM134A, FAM161A, FAM171B, FAM178B, FAM179A, FAM228A, FAM228B, FANCL, FARSB, FASTKD1, FASTKD2, FBXO36, FBXO41, FEZ2, FIGLA, FMNL2, FN1, FOSL2, FRZB, FSHR, FSIP2, FZD5, G6PC2, GAD1, GAL3ST2, GALNT14, GALNT5, GAREML, GCA, GCC2, GCFC2, GDF7, GEN1, GGCX, GIGYF2, GLI2, GORASP2, GPD2, GPN1, GPR1, GPR113, GPR148, GPR155, GPR17, GPR39, GPR55, GPR75-ASB3, GRB14, GREB1, GTDC1, GYPC, HAAO, HADHB, HAT1, HDAC4, HDLBP, HEATR5B, HECW2, HES6, HIBCH, HJURP, HK2, HNMT, HOXD1, HOXD12, HOXD3, HOXD8, HOXD9, HPCAL1, HS1BP3, HS6ST1, HSPD1, IFIH1, IGFBP5, IGKC, IGKJ2, IGKV2D-30, IGKV5-2, IHH, IKZF2, IL18R1, IL1F10, IL1R1, IL1RL1, IL1RL2, IL1RN, IL36A, IL37, ILKAP, IMMT, INHA, INO80D, INPP1, INPP5D, IRS1, ITGA4, ITGAV, ITGB1BP1, ITGB6, ITPRIPL1, ITSN2, IWS1, KCNE4, KCNF1, KCNS3, KCTD18, KIDINS220, KIF1A, KIF3C, KLF11, KLF7, KLHL23, KLHL29, KYNU, LBX2, LCLAT1, LCT, LHCGR, LINC01118, LINC01124, LIPT1, LONRF2, LPIN1, LRP1B, LRP2, LRPPRC, LRRFIP1, LTBP1, LY75-CD302, MALL, MAP3K19, MAP4K3, MAPRE3, MARCH4, MARCH7, MAT2A, MATN3, MBD5, MCEE, MCM6, MDH1B, MEIS1, METTL21A, METTL8, MFF, MMADHC, MOGAT1, MPHOSPH10, MPP4, MPV17, MREG, MROH2A, MRPL19, MRPL30, MRPL35, MRPS9, MSGN1, MTERFD2, MTIF2, MYEOV2, MYO1B, MYO3B, MYO7B, MYT1L, MZT2A, MZT2B, NAT8, NBAS, NBEAL1, NCAPH, NCKAP1, NCKAP5, NCOA1, NDUFA10, NDUFS1, NEB, NEU2, NEU4, NEUROD1, NFU1, NGEF, NHEJ1, NMI, NMS, NMUR1, NOL10, NOP58, NOSTRIN, NOTO, NPAS2, NR4A2, NRP2, NRXN1, NT5C1B, NT5DC4, NTSR2, NUP35, NXPH2, NYAP2, OBSL1, ODC1, OLA1, OR6B2, OR6B3, ORC4, OSBPL6, OSGEPL1, OSR1, OTOF, OXER1, PAIP2B, PARD3B, PASK, PAX3, PCDP1, PDCD1, PDCL3, PDE11A, PDIA6, PELI1, PER2, PFN4, PGAP1, PID1, PIGF, PIKFYVE, PLA2R1, PLB1, PLCD4, PLCL1, PLEK, PLEKHH2, PLEKHM3, PMS1, PNO1, PNPT1, POLE4, POLR1A, POLR1B, POMC, PPIG, PPP1CB, PPP3R1, PREPL, PRKCE, PRKD3, PROM2, PRR21, PRSS56, PSD4, PSME4, PTH2R, PTMA, PTPN18, PTPN4, PUS10, PXDN, R3HDM1, RAB11FIP5, RAB17, RAB3GAP1, RAB6C, RAD51AP2, RALB, RANBP2, RAPH1, RASGRP3, RBM44, RBMS1, REG3A, REG3G, RESP18, RETSAT, REV1, RFTN2, RFX8, RIF1, RMDN2, RMND5A, RNASEH1, RNF103, RNF144A, RNF149, RNF181, ROCK2, RP11-507M3.1, RRM2, RUFY4, SAP130, SCG2, SCLY, SCN2A, SCN3A, SCN7A, SCN9A, SCRN3, SCTR, SDC1, SERPINE2, SESTD1, SF3B1, SFT2D3, SFXN5, SGOL2, SGPP2, SH3YL1, SIX3, SLC11A1, SLC16A14, SLC19A3, SLC25A12, SLC3A1, SLC40A1, SLC4A1AP, SLC4A3, SLC4A5, SLC5A6, SLC9A4, SMARCAL1, SMEK2, SMPD4, SMYD1, SNRNP200, SNTG2, SOCS5, SOWAHC, SP100, SP110, SP140, SP140L, SP5, SPATA3, SPATS2L, SPEG, SPHKAP, SPP2, SPRED2, SPTBN1, SSFA2, ST3GAL5, ST6GAL2, STARD7, STEAP3, STK11IP, STK16, STK17B, STK36, STON1, STON1-GTF2A1L, STRADB, SULT1C3, SULT1C4, TACR1, TAF1B, TANC1, TBC1D8, TEKT4, TET3, TEX261, TFCP2L1, TFPI, TGOLN2, THADA, THAP4, THNSL2, THSD7B, THUMPD2, TLK1, TM4SF20, TMBIM1, TMEFF2, TMEM127, TMEM131, TMEM150A, TMEM17, TMEM177, TMEM18, TMEM182, TMEM194B, TMEM198, TMEM37, TNFAIP6, TNS1, TPO, TRAK2, TRAPPC12, TRIB2, TRIM54, TRIP12, TRMT61B, TRPM8, TSPYL6, TSSC1, TTC21B, TTC27, TTC30A, TTC30B, TTC32, TTC7A, TTL, TTLL4, TTN, TUBA3D, TUBA3E, UBR3, UGGT1, UGP2, UGT1A3, UGT1A4, UGT1A6, UGT1A7, UGT1A8, UNC80, UPP2, USP34, USP37, USP40, VAMP5, VAMP8, VRK2, VWA3B, WDR35, WDR43, WDR75, WDSUB1, WIPF1, XDH, XIRP2, XRCC5, YPEL5, ZAP70, ZC3H6, ZC3H8, ZDBF2, ZFP36L2, ZNF142, ZNF2, ZNF385B, ZNF512, ZNF638, ZNF804A, ZRANB3, ZSWIM2,

Genes at Omim

ABCA12, ABCB11, ABCB6, ABCG8, ACVR1, ADAM17, ADRA2B, AGBL5, ALK, ALMS1, ALS2, APOB, ATIC, BARD1, BCL11A, BMPR2, C2orf71, CAD, CAPN10, CASP10, CASP8, CCDC88A, CD207, CDCA7, CERKL, CHRND, CKAP2L, COL3A1, COL4A3, COL5A2, COL6A3, CPS1, CRYGB, CRYGD, CYP1B1, CYP26B1, D2HGDH, DES, DNMT3A, DRC1, DYNC2LI1, DYSF, ECEL1, EDAR, EIF2AK3, ELMOD3, FAM161A, FASTKD2, FIGLA, FN1, FRZB, FSHR, GAD1, GGCX, GIGYF2, GLI2, GPD2, GYPC, HADHB, HIBCH, HNMT, HS6ST1, HSPD1, IFIH1, IGKC, IHH, IL1RN, IRS1, ITGB6, KIF1A, KLF11, KYNU, LCT, LHCGR, LIPT1, LPIN1, LRP2, LRPPRC, MATN3, MBD5, MCEE, MCM6, MFF, MPV17, MYT1L, NBAS, NDUFA10, NDUFS1, NEB, NEUROD1, NFU1, NHEJ1, NRXN1, OBSL1, ODC1, ORC4, OTOF, PAX3, PDCD1, PDE11A, PER2, PGAP1, PIKFYVE, PNPT1, POLR1A, POMC, PRSS56, PXDN, RAB3GAP1, RANBP2, RNASEH1, SCN2A, SCN9A, SF3B1, SIX3, SLC19A3, SLC25A12, SLC3A1, SLC40A1, SMARCAL1, SNRNP200, SP110, SPEG, STEAP3, TM4SF20, TMEM127, TPO, TTC21B, TTC7A, TTN, UNC80, VWA3B, WDR35, WIPF1, XDH, ZAP70,
ABCA12 Ichthyosis, autosomal recessive 4B (harlequin), 242500 (3)
Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
ABCB11 Cholestasis, benign recurrent intrahepatic, 2, 605479 (3)
Cholestasis, progressive familial intrahepatic 2, 601847 (3)
ABCB6 Dyschromatosis universalis hereditaria 3, 615402 (3)
Microphthalmia, isolated, with coloboma 7, 614497 (3)
Pseudohyperkalemia, familial, 2, due to red cell leak, 609153 (3)
[Blood group, Langereis system], 111600 (3)
ABCG8 Sitosterolemia, 210250 (3)
{Gallbladder disease 4}, 611465 (3)
ACVR1 Fibrodysplasia ossificans progressiva, 135100 (3)
ADAM17 ?Inflammatory skin and bowel disease, neonatal, 1, 614328 (3)
ADRA2B Epilepsy, myoclonic, familial adult, 2, 607876 (3)
AGBL5 Retinitis pigmentosa 75, 617023 (3)
ALK {Neuroblastoma, susceptibility to, 3}, 613014 (3)
ALMS1 Alstrom syndrome, 203800 (3)
ALS2 Amyotrophic lateral sclerosis 2, juvenile, 205100 (3)
Primary lateral sclerosis, juvenile, 606353 (3)
Spastic paralysis, infantile onset ascending, 607225 (3)
APOB Hypercholesterolemia, due to ligand-defective apo B, 144010 (3)
Hypobetalipoproteinemia, 615558 (3)
ATIC AICA-ribosiduria due to ATIC deficiency, 608688 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
BCL11A Dias-Logan syndrome, 617101 (3)
BMPR2 Pulmonary hypertension, familial primary, 1, with or without HHT, 178600 (3)
Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600 (3)
Pulmonary venoocclusive disease 1, 265450 (3)
C2orf71 Retinitis pigmentosa 54, 613428 (3)
CAD ?Congenital disorder of glycosylation, type Iz, 616457 (3)
CAPN10 {Diabetes mellitus, noninsulin-dependent 1}, 601283 (3)
CASP10 Autoimmune lymphoproliferative syndrome, type II, 603909 (3)
Gastric cancer, somatic, 613659 (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
CASP8 ?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Breast cancer, protection against}, 114480 (3)
{Lung cancer, protection against}, 211980 (3)
CCDC88A PEHO syndrome, 260565 (3)
CD207 ?[Birbeck granule deficiency], 613393 (3)
CDCA7 Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 (3)
CERKL Retinitis pigmentosa 26, 608380 (3)
CHRND ?Myasthenic syndrome, congenital, 3A, slow-channel, 616321 (3)
?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323 (3)
Multiple pterygium syndrome, lethal type, 253290 (3)
Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)
CKAP2L Filippi syndrome, 272440 (3)
COL3A1 Ehlers-Danlos syndrome, type IV, 130050 (3)
COL4A3 Alport syndrome, autosomal dominant, 104200 (3)
Alport syndrome, autosomal recessive, 203780 (3)
Hematuria, benign familial, 141200 (3)
COL5A2 Ehlers-Danlos syndrome, classic type, 130000 (3)
COL6A3 Bethlem myopathy 1, 158810 (3)
Dystonia 27, 616411 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
{Venoocclusive disease after bone marrow transplantation} (3)
CRYGB Cataract 39, multiple types, autosomal dominant, 615188 (3)
CRYGD Cataract 4, multiple types, 115700 (3)
CYP1B1 Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
Peters anomaly, 604229 (3)
CYP26B1 Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 (3)
D2HGDH D-2-hydroxyglutaric aciduria, 600721 (3)
DES ?Muscular dystrophy, limb-girdle, type 2R, 615325 (3)
Cardiomyopathy, dilated, 1I, 604765 (3)
Myopathy, myofibrillar, 1, 601419 (3)
Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 (3)
DNMT3A Tatton-Brown-Rahman syndrome, 615879 (3)
DRC1 Ciliary dyskinesia, primary, 21, 615294 (3)
DYNC2LI1 Short-rib throacic dysplasia 15 with polydactyly, 617088 (3)
DYSF Miyoshi muscular dystrophy 1, 254130 (3)
Muscular dystrophy, limb-girdle, type 2B, 253601 (3)
Myopathy, distal, with anterior tibial onset, 606768 (3)
ECEL1 Arthrogryposis, distal, type 5D, 615065 (3)
EDAR Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490 (3)
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)
[Hair morphology 1, hair thickness], 612630 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
ELMOD3 ?Deafness, autosomal recessive 88, 615429 (3)
FAM161A Retinitis pigmentosa 28, 606068 (3)
FASTKD2 ?Mitochondrial complex IV deficiency, 220110 (3)
FIGLA Premature ovarian failure 6, 612310 (3)
FN1 Glomerulopathy with fibronectin deposits 2, 601894 (3)
Plasma fibronectin deficiency, 614101 (1)
FRZB {Osteoarthritis susceptibility 1}, 165720 (3)
FSHR Ovarian dysgenesis 1, 233300 (3)
Ovarian hyperstimulation syndrome, 608115 (3)
Ovarian response to FSH stimulation, 276400 (3)
GAD1 ?Cerebral palsy, spastic quadriplegic, 1, 603513 (3)
GGCX Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, 610842 (3)
Vitamin K-dependent clotting factors, combined deficiency of, 1, 277450 (3)
GIGYF2 {Parkinson disease 11}, 607688 (3)
GLI2 Culler-Jones syndrome, 615849 (3)
Holoprosencephaly 9, 610829 (3)
GPD2 {Diabetes, type 2, susceptibility to}, 125853 (3)
GYPC [Blood group, Gerbich], 616089 (3)
{Malaria, resistance to}, 611162 (3)
HADHB Trifunctional protein deficiency, 609015 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
HNMT Mental retardation, autosomal recessive 51, 616739 (3)
{Asthma, susceptibility to}, 600807 (3)
HS6ST1 {Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3)
HSPD1 Leukodystrophy, hypomyelinating, 4, 612233 (3)
Spastic paraplegia 13, autosomal dominant, 605280 (3)
IFIH1 Aicardi-Goutieres syndrome 7, 615846 (3)
Singleton-Merten syndrome 1, 182250 (3)
IGKC Kappa light chain deficiency, 614102 (3)
IHH Acrocapitofemoral dysplasia, 607778 (3)
Brachydactyly, type A1, 112500 (3)
IL1RN Interleukin 1 receptor antagonist deficiency, 612852 (3)
{Gastric cancer risk after H. pylori infection}, 137215 (3)
{Microvascular complications of diabetes 4}, 612628 (3)
IRS1 {Coronary artery disease, susceptibility to} (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
ITGB6 Amelogenesis imperfecta, type IH, 616221 (3)
KIF1A Mental retardation, autosomal dominant 9, 614255 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
KLF11 Maturity-onset diabetes of the young, type VII, 610508 (3)
KYNU ?Hydroxykynureninuria, 236800 (3)
LCT Lactase deficiency, congenital, 223000 (3)
LHCGR Leydig cell adenoma, somatic, with precocious puberty, 176410 (3)
Leydig cell hypoplasia with hypergonadotropic hypogonadism, 238320 (3)
Leydig cell hypoplasia with pseudohermaphroditism, 238320 (3)
Luteinizing hormone resistance, female, 238320 (3)
Precocious puberty, male, 176410 (3)
LIPT1 Lipoyltransferase 1 deficiency, 616299 (3)
LPIN1 Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
LRP2 Donnai-Barrow syndrome, 222448 (3)
LRPPRC Leigh syndrome, French-Canadian type, 220111 (3)
MATN3 Epiphyseal dysplasia, multiple, 5, 607078 (3)
Spondyloepimetaphyseal dysplasia, 608728 (3)
{Osteoarthritis susceptibility 2}, 140600 (3)
MBD5 Mental retardation, autosomal dominant 1, 156200 (3)
MCEE Methylmalonyl-CoA epimerase deficiency, 251120 (3)
MCM6 Lactase persistence/nonpersistence, 223100 (3)
MFF Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)
MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
MYT1L Mental retardation, autosomal dominant 39, 616521 (3)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NDUFA10 ?Leigh syndrome, 256000 (3)
NDUFS1 Mitochondrial complex I deficiency, 252010 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NEUROD1 Maturity-onset diabetes of the young 6, 606394 (3)
{Diabetes mellitus, noninsulin-dependent}, 125853 (3)
NFU1 Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
NHEJ1 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
NRXN1 Pitt-Hopkins-like syndrome 2, 614325 (3)
{Schizophrenia, susceptibility to, 17}, 614332 (3)
OBSL1 3-M syndrome 2, 612921 (3)
ODC1 {Colonic adenoma recurrence, reduced risk of}, 114500 (3)
ORC4 Meier-Gorlin syndrome 2, 613800 (3)
OTOF Auditory neuropathy, autosomal recessive, 1, 601071 (3)
Deafness, autosomal recessive 9, 601071 (3)
PAX3 Craniofacial-deafness-hand syndrome, 122880 (3)
Rhabdomyosarcoma 2, alveolar, 268220 (3)
Waardenburg syndrome, type 1, 193500 (3)
Waardenburg syndrome, type 3, 148820 (3)
PDCD1 {Multiple sclerosis, disease progression, modifier of}, 126200 (3)
{Systemic lupus erythematosus, susceptibility to, 2}, 605218 (3)
PDE11A Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PER2 Advanced sleep phase syndrome, familial, 1, 604348 (3)
PGAP1 Mental retardation, autosomal recessive 42, 615802 (3)
PIKFYVE Corneal fleck dystrophy, 121850 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
POLR1A Acrofacial dysostosis, Cincinnati type, 616462 (3)
POMC Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
{Obesity, early-onset, susceptibility to}, 601665 (3)
PRSS56 Microphthalmia, isolated 6, 613517 (3)
PXDN Corneal opacification and other ocular anomalies, 269400 (3)
RAB3GAP1 Warburg micro syndrome 1, 600118 (3)
RANBP2 {Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3)
RNASEH1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2, 616479 (3)
SCN2A Epileptic encephalopathy, early infantile, 11, 613721 (3)
Seizures, benign familial infantile, 3, 607745 (3)
SCN9A Epilepsy, generalized, with febrile seizures plus, type 7, 613863 (3)
Erythermalgia, primary, 133020 (3)
Febrile seizures, familial, 3B, 613863 (3)
HSAN2D, autosomal recessive, 243000 (3)
Insensitivity to pain, congenital, 243000 (3)
Paroxysmal extreme pain disorder, 167400, (3)
Small fiber neuropathy, 133020 (3)
{Dravet syndrome, modifier of}, 607208 (3)
SF3B1 Myelodysplastic syndrome, somatic, 614286 (3)
SIX3 Holoprosencephaly 2, 157170 (3)
Schizencephaly, 269160 (3)
SLC19A3 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
SLC25A12 Epileptic encephalopathy, early infantile, 39, 612949 (3)
SLC3A1 Cystinuria, 220100 (3)
SLC40A1 Hemochromatosis, type 4, 606069 (3)
SMARCAL1 Schimke immunoosseous dysplasia, 242900 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
SP110 Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
SPEG Centronuclear myopathy 5, 615959 (3)
STEAP3 ?Anemia, hypochromic microcytic, with iron overload 2, 615234 (3)
TM4SF20 {Specific language impairment 5}, 615432 (3)
TMEM127 {Pheochromocytoma, susceptibility to}, 171300 (3)
TPO Thyroid dyshormonogenesis 2A, 274500 (3)
TTC21B Nephronophthisis 12, 613820 (3)
Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)
TTC7A Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, type 2J, 608807 (3)
Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
UNC80 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3)
VWA3B ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)
WDR35 Cranioectodermal dysplasia 2, 613610 (3)
Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)
WIPF1 ?Wiskott-Aldrich syndrome 2, 614493 (3)
XDH Xanthinuria, type I, 278300 (3)
ZAP70 Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3)
Immunodeficiency 48, 269840 (3)

Genes at Clinical Genomics Database

ABCA12, ABCB11, ABCB6, ABCG8, ACVR1, ADAM17, ALK, ALMS1, ALS2, APOB, ATIC, ATP6V1B1, BARD1, BCL11A, BMPR2, CAD, CASP10, CASP8, CD207, CDCA7, CERKL, CHRND, CKAP2L, COL3A1, COL4A3, COL5A2, COL6A3, CPS1, CRYGB, CRYGD, CYP1B1, D2HGDH, DES, DNMT3A, DYSF, ECEL1, EDAR, EIF2AK3, ELMOD3, FAM161A, FANCL, FASTKD2, FIGLA, FN1, FSHR, GAD1, GGCX, GIGYF2, GLI2, GYPC, HADHB, HDAC4, HIBCH, HNMT, HS6ST1, HSPD1, IFIH1, IGKC, IHH, IL1RN, ITGB6, KIF1A, KLF11, KYNU, LCT, LHCGR, LIPT1, LPIN1, LRP2, LRPPRC, MATN3, MBD5, MCEE, MCM6, MMADHC, MPV17, MYT1L, NBAS, NDUFA10, NDUFS1, NEB, NEUROD1, NFU1, NHEJ1, NRXN1, OBSL1, ORC4, OTOF, PAX3, PDE11A, PER2, PGAP1, PIKFYVE, PNPT1, POLR1A, POMC, PRSS56, PXDN, RAB3GAP1, RANBP2, RNASEH1, SCN2A, SCN9A, SIX3, SLC19A3, SLC25A12, SLC3A1, SLC40A1, SMARCAL1, SNRNP200, SP110, SPEG, ST3GAL5, STEAP3, TMEM127, TPO, TTC21B, TTC7A, TTN, UNC80, VWA3B, WDR35, WIPF1, XDH, ZAP70,
ABCA12 Ichthyosis, lamellar, type 2
Ichthyosis, harlequin
ABCB11 Cholestasis, progressive familial intrahepatic 2
ABCB6 Blood group, Langereis system
Pseudohyperkalemia, familial, 2, due to red cell leak
ABCG8 Sitosterolemia
ACVR1 Fibrodysplasia ossificans progressiva
ADAM17 Inflammatory skin and bowel disease, neonatal 1
ALK Neuroblastoma, susceptibility to, 3
ALMS1 Alstrom syndrome
ALS2 Amyotrophic lateral sclerosis 2
Primary lateral sclerosis, juvenile
Spastic paralysis, infantile onset ascending
APOB Hypercholesterolemia, familial
Hypobetalipoproteinemia, familial
ATIC AICAR transformylase/IMP cyclohydrolase deficiency
ATP6V1B1 Renal tubular acidosis with deafness
BARD1 Breast cancer, susceptibility to
BCL11A Severe speech sound disorder
BMPR2 Pulmonary venoocclusive disease 1
Pulmonary hypertension, primary
CAD Congenital disorder of glycosylation, type Iz
CASP10 Autoimmune lymphoproliferative syndrome, type IIA
CASP8 Caspase 8 defiency
CD207 Birbeck granule deficiency
CDCA7 Immunodeficiency-centromeric instability-facial anomalies syndrome 3
CERKL Retinitis pigmentosa 26
CHRND Myasthenic syndrome, congenital, 3C
Myasthenic syndrome,congenital, slow-channel
Myasthenic syndrome, congenital, fast channel
CKAP2L Filippi syndrome
COL3A1 Ehlers-Danlos syndrome, type IV
COL4A3 Alport syndrome, autosomal recessive
Alport syndrome, autosomal dominant
COL5A2 Ehlers-Danlos syndrome, type II
Ehlers-Danlos syndrome, type I
COL6A3 Dystonia 27
Bethlem myopathy 1
Ullrich congenital muscular dystrophy 1
CPS1 Carbamoylphosphate synthetase I deficiency
CRYGB Cataract 39, multiple types
CRYGD Cataract 4, multiple types
CYP1B1 Glaucoma 3A, primary congenital
Peters anomaly
Glaucoma, primary open angle, adult-onset
D2HGDH D-2-hydroxyglutaric aciduria 1
DES Cardiomyopathy, dilated, 1I
Myopathy, myofibrillar 1
DNMT3A Tatton-Brown-Rahman syndrome
DYSF Myopathy, distal, with anterior tibial onset
Muscular dystrophy, limb-girdle, type 2B
Miyoshi muscular dystrophy 1
ECEL1 Arthrogryposis, distal, type 5D
EDAR Hair morphology 1
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Ectodermal dysplasia, anhidrotic, autosomal dominant
EIF2AK3 Wolcott-Rallison syndrome
Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
ELMOD3 Deafness, autosomal recessive 88
FAM161A Retitinis pigmentosa 28
FANCL Fanconi anemia type L
FASTKD2 Mitochondrial complex IV deficiency
FIGLA Premature ovarian failure 6
FN1 Glomerulopathy with fibronectin deposits 2
FSHR Ovarian dysgenesis 1
Ovarian hyperstimulation syndrome
GAD1 Cerebral palsy, spastic quadriplegic, 1
GGCX Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
Vitamin K-dependent clotting factors, combined deficiency of, 1
GIGYF2 Parkinson disease, autosomal dominant, 11
GLI2 Culler-Jones syndrome
GYPC Blood group, Duch
Blood group, Webb
Blood group, Gerbich
HADHB Trifunctional protein deficiency
HDAC4 Brachydacytly-mental retardation syndrome
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
HNMT Mental retardation, autosomal recessive 51
HS6ST1 Hypogonadotropic hypogonadism 15, with or without anosmia
HSPD1 Leukodystrophy, hypomyelinating, 4
Spastic paraplegia-13
IFIH1 Singleton-Merten syndrome 1
IGKC Immunoglobulin kappa light chain deficiency
IHH Brachydactyly, type A1
Acrocapitofemoral dysplasia
IL1RN Osteomyelitis, sterile multifocal, with periostitis and pustulosis
ITGB6 Amelogenesis imperfecta, type IH
KIF1A Spastic paraplegia 30, autosomal recessive
Neuropathy, hereditary sensory, type IIC
Mental retardation, autosomal dominant 9
KLF11 Maturity-onset diabetes of the young, type VII
KYNU Hydroxykynureninuria
LCT Lactase deficiency, congenital
LHCGR Precocious puberty, male
Luteinizing hormone resistance, female
Leydig cell hypoplasia type II
Leydig cell hypoplasia type I
LIPT1 Lipoyltransferase 1 deficiency
LPIN1 Myoglobinuria, acute, recurrent, autosomal recessive
LRP2 Faciooculoacousticorenal syndrome
Donnai-Barrow syndrome
LRPPRC Leigh syndrome, French-Canadian type
MATN3 Epiphyseal dysplasia, multiple, 5
Spondyloepimetaphyseal dysplasia, matrilin-3 related
MBD5 Mental retardation, autosomal dominant 1
MCEE Methylmalonyl-CoA epimerase deficiency
MCM6 Lactase persistence
Lactose intolerance, adult type
MMADHC Methylmalonic aciduria and homocystinuria, cblD type
MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MYT1L Mental retardation, autosomal dominant 39
NBAS Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
Infantile liver failure syndrome 2
NDUFA10 Leigh syndrome
Mitochondrial complex I deficiency
NDUFS1 Mitochondrial complex I deficiency
NEB Nemaline myopathy 2
NEUROD1 Maturity onset diabetes of the young 6
NFU1 Multiple mitochondrial dysfunctions syndrome 1
NHEJ1 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
NRXN1 Pitt-Hopkins-like syndrome 2
Schizophrenia 17
OBSL1 Three M syndrome 2
ORC4 Meier-Gorlin syndrome 2
OTOF Neuropathy, autosomal recessive, 1
Deafness, autosomal recessive 9
PAX3 Craniofacial-deafness-hand syndrome
Waardenburg syndrome, type 3
Waardenburg syndrome, type 1
PDE11A Pigmented nodular adrenocortical disease, primary, 2
PER2 Advanced sleep phase syndrome, familial
PGAP1 Mental retardation, autosomal recessive 42
PIKFYVE Corneal fleck dystrophy
PNPT1 Deafness, autosomal recessive 70
POLR1A Acrofacial dysostosis, Cincinnati type
POMC Proopiomelanocortin deficiency
PRSS56 Microphthalmia, isolated 6
PXDN Corneal opacification with other ocular anomalies
RAB3GAP1 Warburg micro syndrome 1
RANBP2 Encephalopathy, acute, infection-induced, 3, susceptibility to
RNASEH1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 2
SCN2A Seizures, benign familial infantile, 3
Epileptic encephalopathy, early infantile, 11
SCN9A Paroxysmal extreme pain disorder
SIX3 Holoprosencephaly
SLC19A3 Thiamine metabolism dysfunction syndrome 2 (biotin or thiamine responsive)
SLC25A12 Hypomyelination, global cerebral
SLC3A1 Cystinuria
SLC40A1 Hemochromatosis, type 4
SMARCAL1 Schimke immunoosseous dysplasia
SNRNP200 Retinitis pigmentosa 33
SP110 Hepatic venoocclusive disease with immunodeficiency
SPEG Centronuclear myopathy 5
ST3GAL5 Ganglioside GM3 synthase deficiency
STEAP3 Hypochromic microcytic anemia with iron overload 2
TMEM127 Pheochromocytoma
TPO Thyroid dyshormonogenesis 2A
TTC21B Short-rib thoracic dysplasia 4 with or without polydactyly
Nephronophthisis 12
TTC7A Gastrointestinal defects and immunodeficiency syndrome
TTN Cardiomyopathy, dilated, 1G
Cardiomyopathy, familial hypertrophic 9
UNC80 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
VWA3B Spinocerebellar ataxia, autosomal recessive 22
WDR35 Short -rib thoracic dysplasia 7 with or without polydactyly
Cranioectodermal dysplasia 2
WIPF1 Wiskott-Aldrich syndrome 2
XDH Xanthinuria, type I
ZAP70 Selective T-cell defect

Genes at HGMD

Summary

Number of Variants: 9564
Number of Genes: 647

Export to: CSV

AAK1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs6715776
dbSNP
69741854 3249.77 T G . 1/1 93 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None
View mm170241ct 2 rs3832159,rs66931661
dbSNP
69741753 482.73 CTGT C . 0/1 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.35583 0.35580 0.34251 None None None None None None None
View mm170241ct 2 rs2276689
dbSNP
69741609 35.77 C T . 0/1 4 SYNONYMOUS_CODING LOW SILENT 0.32129 0.32130 0.26561 None None None None None None None

ABCA12

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View mm170241ct 2 rs6711179
dbSNP
215940242 7312.77 T C . 1/1 206 None None None 0.76158 0.76160 0.00 None None None None None None None
View mm170241ct 2 rs7560008
dbSNP
215876166 1746.77 A T . 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99840 0.99840 0.00223 0.32 0.00 None None None None None None None
View mm170241ct 2 rs10498027
dbSNP
215820013 3956.77 G A . 0/1 260 SYNONYMOUS_CODING LOW SILENT 0.35004 0.35000 0.38221 None None None None None None None

ABCB11

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View mm170241ct 2 rs2287622
dbSNP
169830328 2947.77 A G . 1/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58866 0.58870 0.40423 0.35 0.01 None None None None None None None
View mm170241ct 2 rs497692
dbSNP
169789016 1853.77 T C . 1/1 59 SYNONYMOUS_CODING LOW SILENT 0.49681 0.49680 0.45460 None None None None None None None

ABCB6

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View mm170241ct 2 rs1109866
dbSNP
220083279 545.77 C T . 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.73802 0.73800 0.23999 None None None None None None None

ABCG8

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View mm170241ct 2 rs6544718
dbSNP
44104925 1857.77 T C . 1/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92292 0.92290 0.16277 1.00 0.00 None None None None None None None
View mm170241ct 2 rs4148217
dbSNP
44099433 536.77 C A . 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21566 0.21570 0.21905 0.22 0.06 None None None None None None None

ABHD1

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View mm170241ct 2 rs6715286
dbSNP
27351948 2448.77 T G . 1/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98343 0.98340 0.01653 1.00 0.00 None None None None None None None

AC008271.1

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View mm170241ct 2 rs4668962
dbSNP
15840645 2975.77 T C . 1/1 84 SYNONYMOUS_CODING LOW SILENT 0.60743 0.60740 None None None None None None None

AC012493.2

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View mm170241ct 2 rs1437971
dbSNP
100986964 841.77 A C . 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82947 0.82950 1.00 0.00 None None None None None None None

AC017028.1

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View mm170241ct 2 rs3791516
dbSNP
240084053 57.77 T A . 0/1 12 NON_SYNONYMOUS_START LOW MISSENSE 0.08766 0.08766 0.00 None None None None None None None

AC017104.2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs11295750,rs796987985
dbSNP
232317402 1491.73 CA C . 0/1 70 FRAME_SHIFT HIGH 0.23582 0.23580 None None None None None None None

AC062017.1

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View mm170241ct 2 rs3215239
dbSNP
240323905 1170.73 T TG . 0/1 60 FRAME_SHIFT HIGH 0.51817 0.51820 None None None None None None None
View mm170241ct 2 rs1709851
dbSNP
240323661 354.77 C A . 0/1 25 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE 0.76178 0.76180 None None None None None None None

AC079354.1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 . 202938385 453.77 G A . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View mm170241ct 2 rs2882486
dbSNP
202964380 1178.77 G A . 1/1 32 SYNONYMOUS_CODING LOW SILENT 0.47244 0.47240 None None None None None None None
View mm170241ct 2 rs10221698
dbSNP
202939654 850.77 T C . 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33706 0.33710 0.11 0.01 None None None None None None None

AC079612.1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs10180205
dbSNP
240500437 632.77 C T . 0/1 53 SYNONYMOUS_CODING LOW SILENT 0.33866 0.33870 0.45313 None None None None None None None
View mm170241ct 2 rs10187580
dbSNP
240500173 449.77 T C . 0/1 41 SYNONYMOUS_CODING LOW SILENT 0.32947 0.32950 0.43977 None None None None None None None
View mm170241ct 2 rs6543554
dbSNP
240500413 2104.77 A G . 1/1 66 SYNONYMOUS_CODING LOW SILENT 0.82748 0.82750 0.09790 None None None None None None None

AC104667.3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs2292870
dbSNP
238499874 96.77 C T . 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09205 0.09205 0.30 0.00 None None None None None None None
View mm170241ct 2 rs10084167
dbSNP
238500642 164.77 A G . 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40156 0.40160 0.67 0.00 None None None None None None None

AC104809.3

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs4675847
dbSNP
241865156 191.77 T C . 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.78974 0.78970 None None None None None None None
View mm170241ct 2 rs4441463
dbSNP
241872597 196.77 A G . 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67891 0.67890 1.00 0.00 None None None None None None T
View mm170241ct 2 rs10169006
dbSNP
241898824 187.77 A G . 0/1 22 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.68351 0.68350 1.00 0.00 None None None None None None None
View mm170241ct 2 rs10200024
dbSNP
241929228 45.77 A G . 0/1 13 None None None 0.80851 0.80850 1.00 0.00 None None None None None None None
View mm170241ct 2 rs4577273
dbSNP
241922430 123.77 T C . 0/1 27 None None None 0.32987 0.32990 0.05 0.65 None None None None None None None
View mm170241ct 2 rs11688859
dbSNP
241904001 83.77 G C . 0/1 12 None None None 0.67352 0.67350 None None None None None None None

AC112715.2

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs4377288
dbSNP
238166147 478.77 G A . 0/1 43 SYNONYMOUS_CODING LOW SILENT 0.62720 0.62720 None None None None None None None

AC131097.4

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs4973668
dbSNP
242839363 803.77 G C . 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60044 0.12 0.00 None None None None None None None

ACADL

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View mm170241ct 2 rs2286963
dbSNP
211060050 1971.77 T G . 1/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21106 0.21110 0.27657 0.02 0.97 None None None None None None None

ACP1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs79716074
dbSNP
277003 735.77 A G . 0/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26418 0.26420 0.30346 0.12 0.05 None None rs79716074 2 ACID_PHOSPHATASE_1,_SOLUBLE,_A/B_POLYMORPHISM_OF 0 T
View mm170241ct 2 rs11553746
dbSNP
272203 440.77 C T . 0/1 47 None None None 0.24341 0.24340 0.28541 None None None None None None D|T

ACTR1B

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs79616802
dbSNP
98277090 759.77 T C . 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13319 0.13320 0.15224 0.42 0.00 None None None None None None None
View mm170241ct 2 rs113766020
dbSNP
98275383 298.77 G A . 0/1 29 SYNONYMOUS_CODING LOW SILENT 0.00020 0.00020 0.00108 None None None None None None None
View mm170241ct 2 rs1042705
dbSNP
98274527 2445.77 G C . 1/1 72 SYNONYMOUS_CODING LOW SILENT 0.53235 0.53230 0.28841 None None None None None None None

ACVR1

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View mm170241ct 2 rs1146031
dbSNP
158626980 773.77 C T . 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.91394 0.91390 0.08850 None None None None None None None

ACVR1C

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs7594480
dbSNP
158390468 1067.77 T C . 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15196 0.15200 0.17069 0.02 0.02 None None None None None None None
View mm170241ct 2 rs4556933
dbSNP
158443889 9119.77 G A . 1/1 263 SYNONYMOUS_CODING LOW SILENT 0.44030 0.44030 0.48462 None None None None None None None
View mm170241ct 2 rs6746788
dbSNP
158401105 1963.77 T C . 0/1 144 SYNONYMOUS_CODING LOW SILENT 0.01697 0.01697 0.01592 None None None None None None None
View mm170241ct 2 rs77124201
dbSNP
158406849 5508.77 T G . 0/1 394 SYNONYMOUS_CODING LOW SILENT 0.01697 0.01697 0.01738 None None None None None None None

ACVR2A

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View mm170241ct 2 rs1128919
dbSNP
148657117 3758.77 G A . 0/1 245 SYNONYMOUS_CODING LOW SILENT 0.35264 0.35260 0.31364 None None None None None None None

ACYP2

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View mm170241ct 2 rs1817557
dbSNP
54494448 1717.77 G A . 0/1 106 None None None 0.20767 0.20770 None None None None None None None

ADAM17

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs1048610
dbSNP
9634856 1900.77 A G . 1/1 62 SYNONYMOUS_CODING LOW SILENT 0.46446 0.46450 0.35445 None None None None None None None

ADCY3

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View mm170241ct 2 rs7566416
dbSNP
25050977 568.77 T C . 1/1 16 SYNONYMOUS_CODING LOW SILENT 0.65955 0.65950 0.40927 None None None None None None None
View mm170241ct 2 rs11676272
dbSNP
25141538 1718.77 A G . 0/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56689 0.56690 0.40335 0.42 0.00 None None None None None None None
View mm170241ct 2 rs1127568
dbSNP
25046090 604.77 T C . 1/1 17 SYNONYMOUS_CODING LOW SILENT 0.69129 0.69130 0.37460 None None None None None None None
View mm170241ct 2 rs61732745
dbSNP
25141434 894.77 G A . 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.10104 0.10100 0.13025 None None None None None None None
View mm170241ct 2 rs2241759
dbSNP
25064193 605.77 G A . 1/1 17 SYNONYMOUS_CODING LOW SILENT 0.51058 0.51060 0.44668 None None None None None None None

ADI1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs9950
dbSNP
3504687 949.77 A G . 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.53355 0.53350 0.49316 None None None None None None None

ADRA2B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs4426564
dbSNP
96780986 358.77 C T . 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.24860 0.24860 0.29666 None None None None None None None
View mm170241ct 2 rs34667759,rs28365031,rs29000568
dbSNP
96780986 3507.73 C CT... . 1/1 77 SYNONYMOUS_CODING LOW SILENT 0.24860 0.24860 0.29666 None None None None None None None
View mm170241ct 2 rs2229169
dbSNP
96780716 2730.77 T G . 1/1 91 SYNONYMOUS_CODING LOW SILENT 0.70527 0.70530 0.29530 None None None None None None None

AFF3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs4851223
dbSNP
100343557 4754.77 C T . 1/1 137 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None None

AGAP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs8178993
dbSNP
236403462 672.77 C T . 0/1 56 None None None 0.01238 0.01238 0.02353 None None None None None None None
View mm170241ct 2 rs13006916
dbSNP
236761396 155.77 C T . 0/1 19 None None None 0.47963 0.47960 0.00 0.00 None None None None None None None

AGBL5

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs11681145
dbSNP
27290525 2097.77 A G . 1/1 67 None None None 0.64177 0.64180 0.41027 None None None None None None None

AGFG1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs13426457
dbSNP
228416712 6145.77 A G . 1/1 190 SYNONYMOUS_CODING LOW SILENT 0.76717 0.76720 0.24289 None None None None None None None

ALK

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs2246745
dbSNP
29940529 6116.77 A T . 1/1 187 SYNONYMOUS_CODING LOW SILENT 0.58926 0.58930 0.37298 None None None None None None None
View mm170241ct 2 rs1670283
dbSNP
29416572 1706.77 T C . 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99221 0.99220 0.00969 0.71 0.00 None None None None None None None
View mm170241ct 2 rs2256740
dbSNP
29455267 1217.77 A G . 1/1 36 SYNONYMOUS_CODING LOW SILENT 0.50000 0.50000 0.33861 None None None None None None None
View mm170241ct 2 rs2293564
dbSNP
29543663 867.77 T C . 1/1 26 SYNONYMOUS_CODING LOW SILENT 0.77656 0.77660 0.20906 None None None None None None None
View mm170241ct 2 rs4358080
dbSNP
30143499 322.78 G C . 1/1 9 SYNONYMOUS_CODING LOW SILENT 0.89377 0.89380 0.09071 None None None None None None None
View mm170241ct 2 rs1569156
dbSNP
29444095 948.77 C T . 1/1 30 None None None 0.91474 0.91470 None None None None None None None

ALLC

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs13426642
dbSNP
3729254 1270.77 C T . 0/1 93 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19129 0.19130 0.22354 0.21 0.00 None None None None None None None
View mm170241ct 2 rs66473381,rs759577715,rs796898978,rs201406139,rs34308920
dbSNP
3749151 1100.73 GGAA G . 0/1 62 CODON_CHANGE_PLUS_CODON_DELETION MODERATE 0.41194 0.41190 0.49313 None None None None None None None

ALMS1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs6546839
dbSNP
73680508 2718.77 G C . 0/1 176 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36442 0.36440 0.39545 0.00 None None None None None None None
View mm170241ct 2 rs6546836
dbSNP
73677833 3765.77 A G . 0/1 256 SYNONYMOUS_CODING LOW SILENT 0.33826 0.33830 0.37194 None None None None None None None
View mm170241ct 2 rs6546837
dbSNP
73677898 3577.77 G C . 0/1 244 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36362 0.36360 0.39457 0.00 None None None None None None None
View mm170241ct 2 rs2017116
dbSNP
73717103 2983.77 G C . 0/1 219 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13598 0.13600 0.12894 0.00 None None None None None None None
View mm170241ct 2 rs6546838
dbSNP
73679280 2863.77 A G . 0/1 171 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35883 0.35880 0.39125 0.00 None None None None None None None
View mm170241ct 2 rs10496192
dbSNP
73679866 5084.77 T C . 0/1 329 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10363 0.10360 0.14038 0.04 None None None None None None None
View mm170241ct 2 rs3820700
dbSNP
73716810 2344.77 G A . 0/1 143 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12680 0.12680 0.12013 0.96 None None None None None None None
View mm170241ct 2 rs6724782
dbSNP
73679990 2961.77 T A . 0/1 219 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36382 0.36380 0.39536 0.00 None None None None None None None
View mm170241ct 2 rs11884776
dbSNP
73746923 1341.77 C T . 0/1 100 SYNONYMOUS_CODING LOW SILENT 0.25679 0.25680 0.30375 None None None None None None None
View mm170241ct 2 rs10193972
dbSNP
73717656 3141.77 A G . 0/1 232 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35823 0.35820 0.39136 0.00 None None None None None None None
View mm170241ct 2 rs2056486
dbSNP
73717567 1964.77 G T . 0/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35823 0.35820 0.39000 0.00 None None None None None None None
View mm170241ct 2 rs1052162
dbSNP
73829372 686.77 C T . 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.34165 0.34170 0.39359 None None None None None None None
View mm170241ct 2 rs3813227
dbSNP
73651967 1039.77 C T . 0/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36362 0.36360 0.39451 0.00 None None None None None None None
View mm170241ct 2 rs2037814
dbSNP
73675669 1744.77 T G . 0/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87220 0.87220 0.11943 0.00 None None None None None None None

ALPP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs2260309
dbSNP
233245141 178.77 T C . 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.44987 None None None None None None None
View mm170241ct 2 rs2853374
dbSNP
233244586 580.77 C G . 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.94808 0.94810 0.05378 None None None None None None None
View mm170241ct 2 rs1048988
dbSNP
233244930 2249.77 G C . 1/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14058 0.14060 0.18985 1.00 0.00 None None None None None None None
View mm170241ct 2 rs1048989
dbSNP
233244937 133.77 A G . 0/1 79 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ALPPL2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs17416141
dbSNP
233273244 85.28 C A . 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.34465 0.34460 0.27338 0.22 0.26 None None None None None None None
View mm170241ct 2 rs146482704
dbSNP
233272091 920.77 C T . 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00200 0.00200 0.00907 0.01 0.72 None None None None None None None
View mm170241ct 2 rs2090543
dbSNP
233274145 512.77 G C . 1/1 15 SYNONYMOUS_CODING LOW SILENT 0.76897 0.76900 None None None None None None None
View mm170241ct 2 rs1130346
dbSNP
233273107 188.84 A G . 1/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.49 0.00 None None None None None None None
View mm170241ct 2 rs1048995
dbSNP
233274509 86.77 C G . 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11062 0.11060 0.40 0.00 None None None None None None None

ALS2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs2276615
dbSNP
202598113 2239.77 C T . 0/1 166 SYNONYMOUS_CODING LOW SILENT 0.37240 0.37240 0.46800 None None None None None None None
View mm170241ct 2 rs3219168
dbSNP
202575821 1284.77 G A . 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.90535 0.90540 0.11000 None None None None None None None
View mm170241ct 2 rs3219156
dbSNP
202625615 4944.77 C T . 1/1 146 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89657 0.89660 0.13855 0.15 0.00 None None None None None None None

ALS2CR11

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs2714482
dbSNP
202357949 9835.77 A C . 1/1 287 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99661 0.99660 0.47 0.00 None None None None None None None
View mm170241ct 2 rs12474206
dbSNP
202469361 6424.77 C T . 1/1 186 SYNONYMOUS_CODING LOW SILENT 0.97764 0.97760 0.02053 None None None None None None None

AMER3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 2 rs1905235
dbSNP
131520663 2601.77 T C . 1/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99341 0.99340 0.02299 1.00 0.00 None None None None None None None
View mm170241ct 2 rs77687733
dbSNP
131520178 1131.77 C G . 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12540 0.12540 0.12315 0.21 0.49 None None None None None None None