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Genes:
AATF, AATK, ABCA10, ABCA5, ABCA6, ABCA8, ABCA9, ABCC3, ABI3, ABR, AC040977.1, AC061992.1, AC087645.1, AC090616.2, ACACA, ACAP1, ACE, ACLY, ACOX1, ACSF2, ACTG1, ADAM11, ADPRM, AIPL1, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ALOX12, ALOX15, ALOX15B, ALOXE3, AMZ2, ANKFN1, ANKFY1, AOC3, AP2B1, ARHGAP23, ARHGAP27, ARHGEF15, ARL5C, ARRB2, ASB16, ASIC2, ASPA, ASPSCR1, ATAD5, ATP1B2, AURKB, AXIN2, AZI1, B3GNTL1, B4GALNT2, B9D1, BAIAP2, BCAS3, BCL6B, BHLHA9, BIRC5, BLMH, BRCA1, BRIP1, BZRAP1, C17orf100, C17orf102, C17orf103, C17orf47, C17orf49, C17orf50, C17orf53, C17orf58, C17orf59, C17orf66, C17orf70, C17orf72, C17orf74, C17orf77, C17orf80, C17orf82, C17orf97, C17orf99, C1QTNF1, CA10, CACNA1G, CACNG5, CALCOCO2, CAMKK1, CAMTA2, CARD14, CASKIN2, CBX2, CBX8, CCDC137, CCDC144NL, CCDC182, CCDC40, CCDC57, CCL11, CCL15, CCL3, CCL4, CCL4L2, CCR7, CD300C, CD300E, CD300LB, CD300LF, CD300LG, CD79B, CDC27, CDC6, CDK12, CDK5RAP3, CDR2L, CDRT1, CDRT15, CDRT4, CEP112, CHAD, CHMP6, CLDN7, CLEC10A, CLUH, CNP, CNTNAP1, COASY, COG1, COIL, COL1A1, COPRS, COPS3, COPZ2, CORO6, COX10, COX11, CRK, CRLF3, CRYBA1, CSHL1, CTB-96E2.2, CTC1, CTDNEP1, CTNS, CYGB, DCAF7, DCAKD, DDX52, DGKE, DHRS13, DHX33, DHX8, DLX3, DNAH17, DNAH17-AS1, DNAH2, DNAH9, DNAI2, DOC2B, DPH1, DRG2, DVL2, EFCAB5, EFTUD2, EIF4A1, EIF4A3, EIF5A, ELP5, EME1, ENDOV, ENGASE, ENO3, ENPP7, ENTHD2, EPN2, EPN3, ERAL1, ERBB2, ERN1, EVI2A, EVPLL, FADS6, FAM104A, FAM171A2, FAM20A, FAM211A, FAM222B, FAM57A, FAM83G, FASN, FBXO39, FBXO47, FBXW10, FLII, FMNL1, FN3K, FN3KRP, FNDC8, FOXK2, FOXN1, FTSJ3, GAA, GAS2L2, GAST, GCGR, GEMIN4, GGA3, GGT6, GID4, GIP, GIT1, GJD3, GLOD4, GLTPD2, GOSR2, GP1BA, GPATCH8, GPR142, GPR179, GPS2, GRB7, GSDMA, GSDMB, GSG2, HAP1, HDAC5, HELZ, HES7, HEXIM1, HID1, HIGD1B, HOXB1, HOXB3, HOXB5, HOXB7, HS3ST3A1, HS3ST3B1, HSD17B1, HSF5, ICT1, IFI35, IKZF3, INTS2, ITGA3, ITGAE, ITGB3, ITGB4, JUP, KANSL1, KAT2A, KAT7, KCNH6, KCNJ12, KDM6B, KIAA0195, KIAA0753, KIF19, KIF1C, KIF2B, KLHL10, KLHL11, KPNA2, KRT10, KRT13, KRT14, KRT15, KRT16, KRT19, KRT23, KRT24, KRT27, KRT28, KRT32, KRT33A, KRT35, KRT36, KRT37, KRT38, KRT9, KRTAP16-1, KRTAP17-1, KRTAP29-1, KRTAP4-1, KRTAP4-11, KRTAP4-16P, KRTAP4-2, KRTAP4-3, KRTAP4-5, KRTAP4-7, KRTAP4-8, KRTAP4-9, KRTAP9-1, KRTAP9-3, KRTAP9-4, KRTAP9-6, KSR1, LASP1, LEPREL4, LGALS3BP, LGALS9B, LGALS9C, LLGL1, LLGL2, LRRC37A, LRRC37A2, LRRC37B, LRRC3C, LRRC48, LUC7L3, LYZL6, MAP2K3, MAP2K6, MARCH10, MED13, MED24, METRNL, METTL2A, MGAT5B, MIEF2, MINK1, MKS1, MLLT6, MLX, MMP28, MNT, MPP2, MPP3, MPRIP, MRC2, MRPL10, MRPL45, MRPS7, MTMR4, MYADML2, MYBBP1A, MYCBPAP, MYH1, MYH10, MYH13, MYH2, MYH3, MYH4, MYH8, MYO15A, MYO15B, MYO18A, MYO1C, NACA2, NAGLU, NBR1, NDEL1, NEURL4, NF1, NLE1, NLGN2, NMT1, NOL11, NPEPPS, NPLOC4, NPTX1, NR1D1, NT5C, NT5C3B, NTN1, NUFIP2, NUP85, NUP88, ODF4, OGFOD3, OMG, OR1A1, OR1A2, OR1D2, OR1D5, OR1E1, OR1E2, OR3A1, OR3A3, OR4D1, OSBPL7, OTOP2, OTOP3, P2RX5, P4HB, PCGF2, PCTP, PDE6G, PELP1, PER1, PFAS, PFN1, PGAP3, PGS1, PIGL, PIK3R6, PIP4K2B, PITPNM3, PLCD3, PLD2, PLEKHH3, PLXDC1, PMP22, POLDIP2, POLR2A, PPP1R9B, PRKCA, PRPSAP1, PRPSAP2, PSMC5, PSMD3, PTGES3L-AARSD1, PYCR1, PYY, QRICH2, RAB11FIP4, RABEP1, RAI1, RAP1GAP2, RBFOX3, RDM1, RECQL5, RFNG, RHBDF2, RHOT1, RNF213, RNF222, RNF43, RNFT1, RNMTL1, RP11-1055B8.7, RP11-1407O15.2, RP11-385D13.1, RP11-477N12.3, RP11-51L5.7, RPA1, RPRML, RPTOR, RSAD1, RTN4RL1, RUNDC1, RUNDC3A, SARM1, SAT2, SCARF1, SCIMP, SCN4A, SCPEP1, SCRN2, SDK2, SEC14L1, SECTM1, SENP3, SEPT4, SEPT9, SERPINF1, SERPINF2, SEZ6, SGSM2, SHPK, SIRT7, SKAP1, SLC13A2, SLC16A13, SLC16A3, SLC16A5, SLC16A6, SLC25A10, SLC25A19, SLC25A39, SLC2A4, SLC35B1, SLC35G3, SLC35G6, SLC38A10, SLC39A11, SLC46A1, SLC52A1, SLC5A10, SLC9A3R1, SLFN11, SLFN12, SLFN12L, SLFN13, SLFN14, SLFN5, SMCR8, SMG6, SMTNL2, SMYD4, SNF8, SP2, SPAG9, SPATA20, SPDYE4, SPECC1, SPEM1, SPHK1, SPNS2, SPNS3, SPPL2C, SRSF2, SSH2, ST6GALNAC1, ST6GALNAC2, STARD3, STAT5A, STX8, STXBP4, TADA2A, TANC2, TAOK1, TAX1BP3, TBC1D26, TBCD, TBX2, TBX21, TBX4, TCAP, TEFM, TEKT1, TEKT3, TEX14, TEX2, TIMP2, TLCD2, TLK2, TM4SF5, TMC8, TMEM104, TMEM107, TMEM132E, TMEM235, TMEM256, TMEM256-PLSCR3, TMEM92, TMEM99, TMIGD1, TNFRSF13B, TNFSF12, TNFSF12-TNFSF13, TNK1, TNRC6C, TNS4, TOB1, TOP2A, TP53, TRAF4, TRIM16, TRIM16L, TRIM65, TRPV1, TRPV2, TRPV3, TSEN54, TSPAN10, TTC19, TTLL6, TTYH2, TUBD1, TUBG1, TUBG2, TVP23B, TVP23C, UBALD2, UBE2O, UBE2Z, UBTF, ULK2, UNC45B, UNK, USP22, USP6, UTP18, UTS2R, VAT1, VMO1, VPS25, VPS53, VTN, WDR16, WDR45B, WDR81, WFIKKN2, WIPI1, WNT9B, WSB1, WSCD1, XYLT2, YBX2, ZACN, ZBTB4, ZMYND15, ZNF286A, ZNF286B, ZNF652, ZNF830, ZPBP2, ZZEF1,

Genes at Omim

ACACA, ACE, ACOX1, ACTG1, AIPL1, AKAP10, ALDH3A2, ALOXE3, ASPA, ASPSCR1, AXIN2, B9D1, BHLHA9, BRCA1, BRIP1, CACNA1G, CARD14, CBX2, CCDC40, CCL11, CCL3, CD79B, CDC6, CNTNAP1, COASY, COG1, COL1A1, COX10, CRYBA1, CTC1, CTNS, DGKE, DLX3, DNAI2, DPH1, EFTUD2, ENO3, ERBB2, FAM20A, FOXN1, GAA, GCGR, GOSR2, GP1BA, GPR179, HES7, HOXB1, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIAA0753, KIF1C, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT9, MKS1, MYH2, MYH3, MYH8, MYO15A, NAGLU, NF1, P4HB, PDE6G, PFN1, PGAP3, PIGL, PITPNM3, PMP22, PRKCA, PYCR1, RAI1, RHBDF2, RNF213, RNF43, SCN4A, SEPT9, SERPINF1, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, TBX21, TBX4, TCAP, TMC8, TNFRSF13B, TOP2A, TP53, TRPV3, TSEN54, TTC19, TUBG1, UNC45B, VPS53, WDR81, XYLT2, ZMYND15,
ACACA Acetyl-CoA carboxylase deficiency, 613933 (1)
ACE Renal tubular dysgenesis, 267430 (3)
[Angiotensin I-converting enzyme, benign serum increase] (3)
{Microvascular complications of diabetes 3}, 612624 (3)
{Myocardial infarction, susceptibility to} (3)
{SARS, progression of} (3)
{Stroke, hemorrhagic}, 614519 (3)
ACOX1 Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
ACTG1 Baraitser-Winter syndrome 2, 614583 (3)
Deafness, autosomal dominant 20/26, 604717 (3)
AIPL1 Cone-rod dystrophy, 604393 (3)
Leber congenital amaurosis 4, 604393 (3)
Retinitis pigmentosa, juvenile, 604393 (3)
AKAP10 {Cardiac conduction defect, susceptibility to}, 115080 (3)
ALDH3A2 Sjogren-Larsson syndrome, 270200 (3)
ALOXE3 Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
ASPA Canavan disease, 271900 (3)
ASPSCR1 Alveolar soft-part sarcoma, 606243 (3)
AXIN2 Colorectal cancer, somatic, 114500 (3)
Oligodontia-colorectal cancer syndrome, 608615 (3)
B9D1 ?Meckel syndrome 9, 614209 (3)
Joubert syndrome 27, 617120 (3)
BHLHA9 ?Camptosynpolydactyly, complex, 607539 (3)
Syndactyly, mesoaxial synostotic, with phalangeal reduction, 609432 (3)
BRCA1 {Breast-ovarian cancer, familial, 1}, 604370 (3)
{Pancreatic cancer, susceptibility to, 4}, 614320 (3)
BRIP1 Breast cancer, early-onset, 114480 (3)
Fanconi anemia, complementation group J, 609054 (3)
CACNA1G Spinocerebellar ataxia 42, 616795 (3)
CARD14 Pityriasis rubra pilaris, 173200 (3)
Psoriasis 2, 602723 (3)
CBX2 ?46XY sex reversal 5, 613080 (3)
CCDC40 Ciliary dyskinesia, primary, 15, 613808 (3)
CCL11 {Asthma, susceptibility to}, 600807 (3)
{HIV1, resistance to}, 609423 (3)
CCL3 {HIV infection, resistance to}, 609423 (2)
CD79B Agammaglobulinemia 6, 612692 (3)
CDC6 ?Meier-Gorlin syndrome 5, 613805 (3)
CNTNAP1 Lethal congenital contracture syndrome 7, 616286 (3)
COASY Neurodegeneration with brain iron accumulation 6, 615643 (3)
COG1 Congenital disorder of glycosylation, type IIg, 611209 (3)
COL1A1 Caffey disease, 114000 (3)
Ehlers-Danlos syndrome, classic, 130000 (3)
Ehlers-Danlos syndrome, type VIIA, 130060 (3)
Osteogenesis imperfecta, type I, 166200 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
{Bone mineral density variation QTL, osteoporosis}, 166710 (3)
COX10 Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Mitochondrial complex IV deficiency, 220110 (3)
CRYBA1 Cataract 10, multiple types, 600881 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CTNS Cystinosis, atypical nephropathic, 219800 (3)
Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3)
Cystinosis, nephropathic, 219800 (3)
Cystinosis, ocular nonnephropathic, 219750 (3)
DGKE Nephrotic syndrome, type 7, 615008 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 7}, 615008 (3)
DLX3 Amelogenesis imperfecta, type IV, 104510 (3)
Trichodontoosseous syndrome, 190320 (3)
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3)
EFTUD2 Mandibulofacial dysostosis, Guion-Almeida type, 610536 (3)
ENO3 ?Glycogen storage disease XIII, 612932 (3)
ERBB2 Adenocarcinoma of lung, somatic, 211980 (3)
Gastric cancer, somatic, 613659 (3)
Glioblastoma, somatic, 137800 (3)
Ovarian cancer, somatic, (3)
FAM20A Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3)
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
GAA Glycogen storage disease II, 232300 (3)
GCGR {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
GOSR2 Epilepsy, progressive myoclonic 6, 614018 (3)
GP1BA Bernard-Soulier syndrome, type A1 (recessive), 231200 (3)
Bernard-Soulier syndrome, type A2 (dominant), 153670 (3)
von Willebrand disease, platelet-type, 177820 (3)
{Nonarteritic anterior ischemic optic neuropathy, susceptibility to}, 258660 (3)
GPR179 Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
HES7 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
HOXB1 Facial paresis, hereditary congenital, 3, 614744 (3)
ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)
ITGB3 Bleeding disorder, platelet-type, 16, autosomal dominant, 187800 (3)
Glanzmann thrombasthenia, 273800 (3)
Purpura, posttransfusion (3)
Thrombocytopenia, neonatal alloimmune (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
ITGB4 Epidermolysis bullosa of hands and feet, 131800 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
KANSL1 Koolen-De Vries syndrome, 610443 (3)
KIAA0753 ?Orofaciodigital syndrome XV, 617127 (3)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
KRT10 Epidermolytic hyperkeratosis, 113800 (3)
Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT14 Dermatopathia pigmentosa reticularis, 125595 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Naegeli-Franceschetti-Jadassohn syndrome, 161000 (3)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT9 Palmoplantar keratoderma, epidermolytic, 144200 (3)
MKS1 Bardet-Biedl syndrome 13, 615990 (3)
Joubert syndrome 28, 617121 (3)
Meckel syndrome 1, 249000 (3)
MYH2 Proximal myopathy and ophthalmoplegia, 605637 (3)
MYH3 Arthrogryposis, distal, type 2A, 193700 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
Arthrogryposis, distal, type 8, 178110 (3)
MYH8 Carney complex variant, 608837 (3)
Trismus-pseudocamptodactyly syndrome, 158300 (3)
MYO15A Deafness, autosomal recessive 3, 600316 (3)
NAGLU ?Charcot-Marie-Tooth disease, axonal, type 2V, 616491 (3)
Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
NF1 Leukemia, juvenile myelomonocytic, 607785 (3)
Neurofibromatosis, familial spinal, 162210 (3)
Neurofibromatosis, type 1, 162200 (3)
Neurofibromatosis-Noonan syndrome, 601321 (3)
Watson syndrome, 193520 (3)
P4HB Cole-Carpenter syndrome 1, 112240 (3)
PDE6G Retinitis pigmentosa 57, 613582 (3)
PFN1 Amyotrophic lateral sclerosis 18, 614808 (3)
PGAP3 Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
PIGL CHIME syndrome, 280000 (3)
PITPNM3 Cone-rod dystrophy 5, 600977 (3)
PMP22 Charcot-Marie-Tooth disease, type 1A, 118220 (3)
Charcot-Marie-Tooth disease, type 1E, 118300 (3)
Dejerine-Sottas disease, 145900 (3)
Neuropathy, inflammatory demyelinating, 139393 (3)
Neuropathy, recurrent, with pressure palsies, 162500 (3)
Roussy-Levy syndrome, 180800 (3)
PRKCA Pituitary tumor, invasive (3)
PYCR1 Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Cutis laxa, autosomal recessive, type IIIB, 614438 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RHBDF2 Tylosis with esophageal cancer, 148500 (3)
RNF213 {Moyamoya disease 2, susceptibility to}, 607151 (3)
RNF43 Sessile serrated polyposis cancer syndrome, 617108 (3)
SCN4A Hyperkalemic periodic paralysis, type 2, 170500 (3)
Hypokalemic periodic paralysis, type 2, 613345 (3)
Myasthenic syndrome, congenital, 16, 614198 (3)
Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3)
Paramyotonia congenita, 168300 (3)
SEPT9 Amyotrophy, hereditary neuralgic, 162100 (3)
Leukemia, acute myeloid, therapy-related (1)
Ovarian carcinoma (1)
SERPINF1 Osteogenesis imperfecta, type VI, 613982 (3)
SLC25A19 Microcephaly, Amish type, 607196 (3)
Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SLC52A1 Riboflavin deficiency, 615026 (3)
SLC9A3R1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 (3)
SLFN14 Bleeding disorder, platelet-type, 20, 616913 (3)
TBX21 Asthma and nasal polyps, 208550 (3)
{Asthma, aspirin-induced, susceptibility to}, 208550 (3)
TBX4 Ischiocoxopodopatellar syndrome, 147891 (3)
TCAP Cardiomyopathy, hypertrophic, 25, 607487 (3)
Muscular dystrophy, limb-girdle, type 2G, 601954 (3)
TMC8 Epidermodysplasia verruciformis, 226400 (3)
TNFRSF13B Immunodeficiency, common variable, 2, 240500 (3)
Immunoglobulin A deficiency 2, 609529 (3)
TOP2A DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
TP53 Adrenal cortical carcinoma, 202300 (3)
Breast cancer, 114480 (3)
Choroid plexus papilloma, 260500 (3)
Colorectal cancer, 114500 (3)
Hepatocellular carcinoma, 114550 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, 607107 (3)
Osteosarcoma, 259500 (3)
Pancreatic cancer, 260350 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Glioma susceptibility 1}, 137800 (3)
TRPV3 ?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3)
Olmsted syndrome, 614594 (3)
TSEN54 ?Pontocerebellar hypoplasia type 5, 610204 (3)
Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
TTC19 Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)
TUBG1 Cortical dysplasia, complex, with other brain malformations 4, 615412 (3)
UNC45B ?Cataract 43, 616279 (3)
VPS53 Pontocerebellar hypoplasia, type 2E, 615851 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
XYLT2 Spondyloocular syndrome, 605822 (3)
{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
ZMYND15 ?Spermatogenic failure 14, 615842 (3)

Genes at Clinical Genomics Database

ABCA5, ACE, ACOX1, ACTG1, AIPL1, ALDH3A2, ALOXE3, ASPA, AXIN2, B9D1, BHLHA9, BRCA1, BRIP1, CACNA1G, CARD14, CBX2, CCDC137, CCDC40, CD79B, CDC6, CNTNAP1, COASY, COG1, COL1A1, COX10, CRYBA1, CTC1, CTNS, DGKE, DLX3, DNAI2, DPH1, EFTUD2, EIF4A3, ENO3, FAM20A, FOXN1, GAA, GOSR2, GP1BA, GPR179, HES7, HOXB1, ITGA3, ITGB3, ITGB4, JUP, KANSL1, KIF1C, KLHL10, KRT10, KRT13, KRT14, KRT16, KRT9, MKS1, MYH2, MYH3, MYH8, MYO15A, NAGLU, NF1, P4HB, PDE6G, PFN1, PGAP3, PIGL, PITPNM3, PMP22, PYCR1, RAI1, RHBDF2, RNF213, SCN4A, SEPT9, SERPINF1, SERPINF2, SLC25A19, SLC46A1, SLC52A1, SLC9A3R1, SLFN14, TBX4, TCAP, TMC8, TNFRSF13B, TP53, TRPV3, TSEN54, TTC19, TUBG1, UNC45B, VPS53, WDR81, ZMYND15,
ABCA5 Hypertrichosis terminalis, generalized, with or without gingival hyperplasia
ACE ACE serum levels
Renal tubular dysgenesis
ACOX1 Peroxisomal acyl-CoA oxidase deficiency
ACTG1 Baraitser-Winter syndrome 2
Deafness, autosomal dominant 20
AIPL1 Cone-rod dystrophy, AIPL1-related
Retinitis pigmentosa, juvenile, AIPL1-related
Leber congenital amaurosis 4
ALDH3A2 Sjogren-Larsson syndrome
ALOXE3 Ichthyosiform erythroderma, congenital, nonbullous, 1
ASPA Aspartoacylase deficiency (Canavan disease)
AXIN2 Oligodontia-colorectal cancer syndrome
B9D1 Meckel syndrome 9
BHLHA9 Syndactyly, mesoaxial synostotic, with phalangeal reduction
BRCA1 Pancreatic cancer, susceptibility to, 4
Breast-ovarian cancer, familial, susceptibility to, 1
BRIP1 Fanconi anemia, complementation group J
Breast cancer
CACNA1G Spinocerebellar ataxia 42
CARD14 Psoriasis 2
CBX2 46,XY sex reversal 5
CCDC137 Schizophrenia
CCDC40 Ciliary dyskinesia, primary, 15
CD79B Agammaglobulinemia 6
CDC6 Meier-Gorlin syndrome 5
CNTNAP1 Lethal congenital contracture syndrome 7
COASY Neurodegeneration with brain iron accumulation 6
COG1 Congenital disorder of glycosylation, type IIg
COL1A1 Ehlers-Danlos syndrome, type VII, autosomal dominant
Ehlers-Danlos syndrome, type I
COX10 Leigh syndrome
Mitochondrial complex IV deficiency
CRYBA1 Cataract 10, multiple types
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
CTNS Cystinosis
DGKE Nephrotic syndrome, type 7
DLX3 Amelogenesis imperfecta, type IV
Trichodontoosseous syndrome
DNAI2 Ciliary dyskinesia, primary, 9
DPH1 Developmental delay with short stature, dysmorphic features, and sparse hair
EFTUD2 Esophageal atresia, syndromic
Mandibulofacial dysostosis, Guion-Almeida type
EIF4A3 Richieri-Costa-Pereira Syndrome
ENO3 Glycogen storage disease XIII
FAM20A Amelogenesis imperfecta, type IG (Enamel-renal syndrome)
FOXN1 T-cell immunodeficiency, congenital alopecia, and nail dystrophy
GAA Glycogen storage disease II
GOSR2 Epilepsy, progessive myoclonic 6
GP1BA Pseudo-von Willebrand disease
Bernard-Soulier syndrome, type A1
Bernard-Soulier syndrome, type A2
GPR179 Night blindness, congenital stationary, type 1E
HES7 Spondylocostal dysostosis 4, autosomal recessive
HOXB1 Facial paresis, hereditary congenital, 3
ITGA3 Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
ITGB3 Thrombocytopenia, neonatal alloimmune
Glanzmann thrombasthenia
Bleeding disorder, platelet-type, 16, autosomal dominant
ITGB4 Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, with pyloric atresia
JUP Naxos disease
Arrhythmogenic right ventricular dysplasia, familial, 12
KANSL1 Koolen-de Vries syndrom
KIF1C Spastic ataxia 2, autosomal recessive
KLHL10 Spermatogenic failure 11
KRT10 Ichthyosis with confetti
Epidermolytic hyperkeratosis
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Aaru disease
Erythroderma, ichthyosiform, congenital reticular
KRT13 White sponge nevus 2
KRT14 Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Koebner type
Dermatopathia pigmentosa reticularis
Naegeli-Franceschetti-Jadassohn syndrome
Epidermolysis bullosa simplex, autosomal recessive
KRT16 Pachyonychia congenita 1
Palmoplantar keratoderma, nonepidermolytic, focal
KRT9 Knuckle pads
Palmoplantar keratoderma, epidermolytic
MKS1 Bardet-Biedl syndrome 13
Meckel syndrome 1
MYH2 Inclusion body myopathy 3
MYH3 Arthrogryposis, distal, type 8
Arthyrgryposis, distal, type 2B
Arthrogryposis, distal, type 2A
MYH8 Trismus-pseudocamptodactyly syndrome
Arthrogryposis, distal, type 7
Carney complex variant
MYO15A Deafness, autosomal recessive 3
NAGLU Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)
NF1 Watson syndrome
Neurofibromatosis type 1, Neurofibromatosis-Noonan syndrome
P4HB Cole Carpenter syndrome 1
PDE6G Retinitis pigmentosa 57
PFN1 Amyotrophic lateral sclerosis 18
PGAP3 Hyperphosphatasia with mental retardation syndrome 4
PIGL CHIME syndrome
PITPNM3 Cone-rod dystrophy 5
PMP22 Neuropathy, inflammatory demyelinating
Dejerine-Sottas disease
Neuropathy, hereditary, with liability to pressurve palsies
Charcot-Marie-Tooth syndrome with deafness (type 1E)
Charcot-Marie-Tooth syndrome, type 1A
Roussy-Levy syndrome
PYCR1 Cutis laxa, autosomal recessive type IIIB
Cutis laxa, autosomal recessive, type IIB
RAI1 Smith-Magenis syndrome
RHBDF2 Tylosis with esophageal cancer
RNF213 Moyamoya disease 2
SCN4A Myotonia, potassium-aggravated
Myasthenic syndrome, congenital, 16
Malignant hyperthermia, susceptibility to
Normokalemic potassium-sensitive periodic paralysis
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis, type 2
Paramyotonia congenita
SEPT9 Amyotrophy, hereditary neuralgic
SERPINF1 Osteogenesis imperfecta, type VI
SERPINF2 Alpha-2-plasmin inhibitor deficiency
SLC25A19 Microcephaly, Amish type
Thiamine metabolism dysfunction syndrome 4
SLC46A1 Folate malabsorption, hereditary
SLC52A1 Maternal riboflavin deficiency
SLC9A3R1 Nephrolithiasis/osteoporosis, hypophosphatemic, 2
SLFN14 Bleeding disorder, platelet-type, 20
TBX4 Small patella syndrome
TCAP Muscular dystrophy, limb-girdle, type 2G
Cardiomyopathy, familial hypertrophic 25
Cardiomyopathy, dilated, 1N
TMC8 Epidermodysplasia verruciformis
TNFRSF13B Common variable immunodeficiency 2
Immunoglobulin A deficiency 2
TP53 Colorectal cancer
Adrenocortical carcinoma
Non-Hodgkin lymphoma
Hepatoblastoma
Breast cancer, familial
Osteogenic sarcoma
Ependymoma, intracranial
Choroid plexus papilloma
Li-Fraumeni syndrome
TRPV3 Palmoplantar keratoderma, nonepidermolytic focal 2
Olmsted syndrome
TSEN54 Pontocerebellar hypoplasia type 5
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia, type 2A
TTC19 Mitochondrial complex III deficiency, nuclear type 2
TUBG1 Cortical dysplasia, complex, with other brain malformations 4
UNC45B Cataract 43
VPS53 Pontocerebellar hypoplasia, type 2E
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
ZMYND15 Spermatogenic failure 14

Genes at HGMD

Summary

Number of Variants: 6949
Number of Genes: 597

Export to: CSV

AATF

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 17 rs1045056
dbSNP
35346641 1050.77 T C . 1/1 33 SYNONYMOUS_CODING LOW SILENT 0.15675 0.15670 0.24273 None None None None None None None

AATK

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 17 rs8073904
dbSNP
79095144 391.77 G A . 0/1 28 SYNONYMOUS_CODING LOW SILENT 0.80531 0.80530 0.14925 None None None None None None None
View mm170241ct 17 rs746215042,rs376907005
dbSNP
79093270 681.73 C CG... . 0/1 25 CODON_INSERTION MODERATE 0.09036 None None None None None None None
View mm170241ct 17 rs7503604
dbSNP
79095629 685.77 C A . 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55651 0.55650 0.46455 0.17 0.00 None None None None None None None

ABCA10

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 17 rs12941264
dbSNP
67215712 3748.77 C T . 1/1 103 SYNONYMOUS_CODING LOW SILENT 0.59844 0.59840 0.32759 None None None None None None None
View mm170241ct 17 rs11657804
dbSNP
67210992 2005.77 T C . 0/1 150 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.26158 0.26160 0.29885 0.30 0.16 None None None None None None None
View mm170241ct 17 rs9909216
dbSNP
67212423 2810.77 G A . 1/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58067 0.58070 0.34515 0.03 0.03 None None None None None None None
View mm170241ct 17 rs4968849
dbSNP
67178316 1729.77 A G . 1/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71126 0.71130 0.24304 1.00 0.00 None None None None None None None
View mm170241ct 17 rs11077414
dbSNP
67212031 10917.77 A G . 1/1 309 SYNONYMOUS_CODING LOW SILENT 0.06470 0.47140 0.42465 None None None None None None None

ABCA5

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 17 rs536009
dbSNP
67273882 3673.77 C A . 1/1 107 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80172 0.80170 0.22177 0.62 0.00 None None None None None None None
View mm170241ct 17 rs12449649
dbSNP
67260926 6051.77 A G . 1/1 166 SYNONYMOUS_CODING LOW SILENT 0.37939 0.37940 0.39114 None None None None None None None
View mm170241ct 17 rs78349182
dbSNP
67257281 1554.77 C T . 0/1 100 SYNONYMOUS_CODING LOW SILENT 0.02995 0.02995 0.06189 None None None None None None None

ABCA6

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 17 rs2302134
dbSNP
67081830 3907.77 T C . 1/1 110 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45986 0.45990 0.48539 0.16 0.05 None None None None None None None
View mm170241ct 17 rs7212506
dbSNP
67101718 814.77 C T . 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74780 0.74780 0.22058 0.42 0.00 None None None None None None None
View mm170241ct 17 rs4968839
dbSNP
67125840 8360.77 C T . 1/1 249 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55511 0.55510 0.40099 0.35 0.00 None None None None None None None

ABCA8

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 17 rs1481
dbSNP
66872802 2679.77 G C . 1/1 82 SYNONYMOUS_CODING LOW SILENT 0.81350 0.81350 0.26980 None None None None None None None

ABCA9

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 17 rs2302294
dbSNP
66985992 1686.77 T G . 0/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.41334 0.41330 0.48347 0.02 0.46 None None None None None None None
View mm170241ct 17 rs2302291
dbSNP
67028260 1427.77 T C . 0/1 112 SYNONYMOUS_CODING LOW SILENT 0.40695 0.40690 0.47932 None None None None None None None
View mm170241ct 17 rs1860447
dbSNP
67031457 6898.77 C T . 1/1 201 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85783 0.85780 0.14363 0.90 0.00 None None None None None None None

ABCC3

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 17 rs11568591
dbSNP
48761053 316.77 G A . 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01977 0.01977 0.04744 0.00 1.00 None None None None None None None

ABI3

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 17 rs616338
dbSNP
47297297 403.77 T C . 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99840 0.99840 0.00701 1.00 0.00 None None None None None None None

ABR

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs2262150
dbSNP
970413 406.77 C T . 1/1 12 SYNONYMOUS_CODING LOW SILENT 0.89697 0.89700 0.13425 None None None None None None None

AC040977.1

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 17 rs7338
dbSNP
6917703 122.03 C T . 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76378 0.76380 0.07 0.92 None None None None None None None

AC061992.1

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 17 rs72914883
dbSNP
76422815 38.77 A G . 0/1 3 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13139 0.13140 0.00 None None None None None None None
View mm170241ct 17 rs4969188
dbSNP
76422473 90.77 T C . 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.76617 0.76620 0.00 None None None None None None None

AC087645.1

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 17 rs2239680
dbSNP
76219783 68.77 T C . 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21765 0.21770 0.00 0.50 None None None None None None None
View mm170241ct 17 rs17882627
dbSNP
76219739 58.77 G A . 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01278 0.01278 0.01530 0.00 0.81 None None None None None None None

AC090616.2

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 17 rs13342625
dbSNP
30469423 86.28 C A . 1/1 4 SYNONYMOUS_CODING LOW SILENT 0.31510 0.31510 None None None None None None None

ACACA

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 17 rs58654829
dbSNP
35696804 5974.77 G A . 1/1 177 SYNONYMOUS_CODING LOW SILENT 0.58546 0.58550 0.34776 None None None None None None None
View mm170241ct 17 rs2229416
dbSNP
35609866 4418.77 C T . 0/1 287 SYNONYMOUS_CODING LOW SILENT 0.21985 0.21980 0.09726 None None None None None None None
View mm170241ct 17 rs1470452
dbSNP
35478362 2471.77 T C . 1/1 72 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 0.00108 None None None None None None None

ACAP1

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 17 rs35985803
dbSNP
7254315 519.77 G A . 0/1 40 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04273 0.04273 0.06512 0.35 0.00 None None None None None None None

ACE

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 17 rs4331
dbSNP
61564052 1016.77 A G . 0/1 68 SYNONYMOUS_CODING LOW SILENT 0.52955 0.52960 0.44326 None None None None None None None
View mm170241ct 17 rs4362
dbSNP
61573761 673.77 T C . 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.58746 0.58750 0.49470 None None None None None None None
View mm170241ct 17 rs4316
dbSNP
61562309 254.77 C T . 0/1 23 SYNONYMOUS_CODING LOW SILENT 0.51917 0.51920 0.42675 None None None None None None None
View mm170241ct 17 rs4309
dbSNP
61559923 684.77 C T . 0/1 50 SYNONYMOUS_CODING LOW SILENT 0.42352 0.42350 0.33569 None None None None None None None
View mm170241ct 17 rs4343
dbSNP
61566031 810.77 G A . 0/1 85 SYNONYMOUS_CODING LOW SILENT 0.64317 0.64320 0.43987 None None None None None None None

ACLY

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 17 rs8065502
dbSNP
40048613 1752.77 A G . 1/1 51 SYNONYMOUS_CODING LOW SILENT 0.90435 0.90440 0.12479 None None None None None None None

ACOX1

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 17 rs1135640
dbSNP
73949540 1065.77 G C . 1/1 29 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.55072 0.55070 0.49131 0.17 0.00 None None None None None None None

ACSF2

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 17 rs2305998
dbSNP
48549791 600.77 C G . 0/1 34 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.18570 0.18570 0.24427 None None None None None None None
View mm170241ct 17 rs9674937
dbSNP
48539035 303.77 T C . 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.34405 0.34400 0.37667 None None None None None None None

ACTG1

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 17 rs1139405
dbSNP
79478019 488.77 G A . 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.75619 0.75620 0.24543 None None None None None None None

ADAM11

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 17 rs35936481
dbSNP
42851729 88.28 C T . 1/1 3 SYNONYMOUS_CODING LOW SILENT 0.64557 0.64560 0.40983 None None None None None None None
View mm170241ct 17 rs1558083
dbSNP
42852604 1542.77 G T . 1/1 46 SYNONYMOUS_CODING LOW SILENT 0.64557 0.64560 0.41950 None None None None None None T|.
View mm170241ct 17 rs1558084
dbSNP
42852610 1602.77 T C . 1/1 47 SYNONYMOUS_CODING LOW SILENT 0.90495 0.90500 0.10518 None None None None None None None
View mm170241ct 17 rs8075210
dbSNP
42854610 614.77 T C . 1/1 19 SYNONYMOUS_CODING LOW SILENT 0.64537 0.64540 0.41973 None None None None None None None
View mm170241ct 17 rs2070605
dbSNP
42855554 547.77 T C . 1/1 19 SYNONYMOUS_CODING LOW SILENT 0.64537 0.64540 0.41996 None None None None None None None

ADPRM

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 17 rs406446
dbSNP
10614442 1594.77 A G . 0/1 140 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48722 0.48720 0.48770 0.09 0.02 None None None None None None None

AIPL1

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 17 rs8075035
dbSNP
6331803 1139.77 T C . 1/1 36 SYNONYMOUS_CODING LOW SILENT 0.57588 0.57590 0.39474 None None None None None None None
View mm170241ct 17 rs2292546
dbSNP
6330068 1129.77 T C . 1/1 35 SYNONYMOUS_CODING LOW SILENT 0.71366 0.71370 0.26134 None None None None None None None
View mm170241ct 17 rs12449580
dbSNP
6337247 218.77 C G . 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17991 0.17990 0.16539 0.00 0.76 None None None None None None None

AKAP10

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 17 rs203462
dbSNP
19812541 3450.77 T C . 0/1 268 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39397 0.39400 0.45041 1.00 0.00 None None None None None None None
View mm170241ct 17 rs2108978
dbSNP
19861458 2432.77 C T . 0/1 157 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38958 0.38960 0.44495 0.74 0.00 None None None None None None None

ALDH3A1

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 17 rs2072330
dbSNP
19644472 589.77 A T . 0/1 34 SYNONYMOUS_CODING LOW SILENT 0.29074 0.29070 0.30186 None None None None None None None
View mm170241ct 17 rs887241
dbSNP
19645938 1131.77 A C . 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.74461 0.74460 0.34669 0.88 0.00 None None None None None None None

ALDH3A2

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 17 rs7216
dbSNP
19578873 2643.77 A T . 0/1 204 SPLICE_SITE_REGION LOW 0.67851 0.67850 0.44933 None None None None None None None
View mm170241ct 17 rs1800869
dbSNP
19564634 1119.77 C G . 0/1 102 None None None 0.22784 0.22780 0.00 None None None None None None None

ALKBH5

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 17 rs11078411
dbSNP
18088094 877.77 C T . 0/1 66 SYNONYMOUS_CODING LOW SILENT 0.17951 0.17950 0.23006 None None None None None None None

ALOX12

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 17 rs148602792
dbSNP
6901889 837.77 A C . 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00040 0.00040 0.00085 0.00 0.46 None None None None None None None
View mm170241ct 17 rs434473
dbSNP
6904934 1311.77 A G . 1/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.34125 0.34130 0.34507 0.81 0.00 None None None None None None None
View mm170241ct 17 rs312467
dbSNP
6899559 143.9 C G . 1/1 6 SYNONYMOUS_CODING LOW SILENT 0.00140 0.94930 None None None None None None None
View mm170241ct 17 rs312462
dbSNP
6913652 2323.77 G A . 0/1 142 SYNONYMOUS_CODING LOW SILENT 0.11921 0.11920 0.08873 None None None None None None None

ALOX15

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 17 rs11568129
dbSNP
4535301 3047.77 G A . 1/1 88 SYNONYMOUS_CODING LOW SILENT 0.03674 0.03674 0.04114 None None None None None None None
View mm170241ct 17 rs3887815
dbSNP
4541560 12.77 G A LowQual 1/1 9 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ALOX15B

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 17 rs11541083
dbSNP
7950377 279.77 C T . 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.24840 0.24840 0.26411 None None None None None None None
View mm170241ct 17 rs6503070
dbSNP
7948175 488.77 C T . 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.59724 0.59720 0.44572 None None None None None None D|D|D|.
View mm170241ct 17 rs4792147
dbSNP
7951819 721.77 A G . 0/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65036 0.65040 0.39520 0.46 0.00 None None None None None None None
View mm170241ct 17 rs9898751
dbSNP
7950952 292.77 C A . 0/1 28 SYNONYMOUS_CODING LOW SILENT 0.44748 0.44750 0.44649 None None None None None None None

ALOXE3

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 17 rs3809881
dbSNP
7999957 244.77 G A . 0/1 28 SYNONYMOUS_CODING LOW SILENT 0.42472 0.42470 0.36845 None None None None None None None
View mm170241ct 17 rs112227180
dbSNP
8021407 326.77 G C . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01058 0.01058 0.72 0.00 None None None None None None None
View mm170241ct 17 rs3027232
dbSNP
8022065 825.77 G A . 0/1 65 None None None 0.37400 0.37400 0.00 0.00 None None None None None None None

AMZ2

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 17 rs7105
dbSNP
66253095 780.77 T A . 0/1 53 SYNONYMOUS_CODING LOW SILENT 0.37061 0.37060 0.31332 None None None None None None None
View mm170241ct 17 rs3213690
dbSNP
66246416 2740.77 A G . 1/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79792 0.79790 0.24127 1.00 0.00 None None None None None None None

ANKFN1

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 17 rs10852985
dbSNP
54534634 3486.77 G A . 1/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75160 0.75160 0.30403 0.16 0.46 None None None None None None None
View mm170241ct 17 rs957724
dbSNP
54450038 336.77 C A . 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.61562 0.61560 0.46432 None None None None None None None
View mm170241ct 17 rs8069322
dbSNP
54450134 677.77 G A . 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.67232 0.67230 0.39474 None None None None None None None

ANKFY1

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 17 rs2020118
dbSNP
4088291 495.77 C T . 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.77436 0.77440 0.20761 None None None None None None None
View mm170241ct 17 rs114686778
dbSNP
4074112 569.77 G A . 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.00659 0.00659 0.00761 None None None None None None None

AOC3

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 17 rs33986943
dbSNP
41004637 586.77 G A . 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04832 0.04832 0.07450 0.38 0.00 None None None None None None None
View mm170241ct 17 rs408038
dbSNP
41003871 400.77 G A . 0/1 52 PROTEIN_INTERACTION_LOCUS HIGH 0.00180 0.23 0.05 None None None None None None None
View mm170241ct 17 rs375511
dbSNP
41003874 440.77 C T . 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.00060 0.00060 None None None None None None None

AP2B1

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 17 rs17670584
dbSNP
33998904 1411.77 T C . 0/1 107 SYNONYMOUS_CODING LOW SILENT 0.04353 0.04353 0.07804 None None None None None None None

ARHGAP23

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 17 rs9891156
dbSNP
36646386 840.77 A G . 1/1 25 SYNONYMOUS_CODING LOW SILENT 0.99082 0.99080 0.02015 None None None None None None None
View mm170241ct 17 rs62074752
dbSNP
36666551 55.77 T C . 0/1 10 SYNONYMOUS_CODING LOW SILENT 0.83746 0.83750 None None None None None None None
View mm170241ct 17 rs8075324
dbSNP
36622482 1326.77 G C . 1/1 42 SYNONYMOUS_CODING LOW SILENT 0.29872 0.29870 None None None None None None None

ARHGAP27

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 17 rs2959953
dbSNP
43507008 2186.77 G C . 1/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61961 0.61960 0.27764 1.00 0.00 None None None None None None None

ARHGEF15

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 17 rs871841
dbSNP
8216468 1043.77 T C . 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62101 0.62100 0.43657 1.00 0.00 None None None None None None None
View mm170241ct 17 rs3744647
dbSNP
8224276 533.77 T C . 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.57788 0.57790 0.35699 1.00 0.00 None None None None None None None

ARL5C

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 17 rs544198
dbSNP
37319029 184.77 T G . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23522 0.23520 0.22887 0.01 0.14 None None None None None None None
View mm170241ct 17 rs657723
dbSNP
37319103 62.77 T C . 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33307 0.33310 0.32063 0.02 0.02 None None None None None None None
View mm170241ct 17 rs657672
dbSNP
37319065 132.77 C T . 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13219 0.13220 0.11301 0.04 0.07 None None None None None None None
View mm170241ct 17 rs16522
dbSNP
37316988 121.77 T C . 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13938 0.13940 0.12308 1.00 0.00 None None None None None None None

ARRB2

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 17 rs1045280
dbSNP
4622638 1312.77 C T . 0/1 89 SYNONYMOUS_CODING LOW SILENT 0.66953 0.66950 0.40051 None None None None None None None

ASB16

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 17 rs7212573
dbSNP
42254281 300.77 A G . 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51797 0.51800 0.39450 1.00 0.00 None None None None None None None
View mm170241ct 17 rs7218599
dbSNP
42248346 729.77 A T . 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92652 0.92650 0.10149 0.07 0.00 None None None None None None None
View mm170241ct 17 rs141590219
dbSNP
42254298 162.77 C T . 0/1 17 SYNONYMOUS_CODING LOW SILENT 0.00899 0.00899 0.01588 None None None None None None None
View mm170241ct 17 rs7212854
dbSNP
42254417 96.77 A G . 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45427 0.45430 0.15988 0.01 0.22 None None None None None None None
View mm170241ct 17 rs7217858
dbSNP
42254527 210.77 T G . 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51917 0.51920 0.36072 0.51 0.00 None None None None None None None

ASIC2

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 17 rs9893935
dbSNP
31618732 642.77 A G . 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.55990 0.55990 0.48428 None None None None None None None
View mm170241ct 17 rs9890913
dbSNP
31618551 327.77 G A . 0/1 20 SYNONYMOUS_CODING LOW SILENT 0.12899 0.12900 0.09829 None None None None None None None