SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABHD11, AC004899.1, AC005008.2, AC011294.3, AC021218.2, AC073343.1, AC074389.6, AC091801.1, AC110781.3, AC145676.2, ACHE, ADAM22, ADAP1, ADCY1, AEBP1, AGAP3, AGBL3, AGFG2, AGR2, AHCYL2, AKAP9, AKR1B10, AKR1B15, AMPH, AMZ1, ANKIB1, ANKMY2, ANKRD61, ANLN, AOAH, AOC1, ARMC10, ASB10, ASB15, ASIC3, ASNS, ASZ1, ATG9B, ATP6V0A4, AVL9, BAIAP2L1, BAZ1B, BBS9, BLACE, BLVRA, BMPER, C7orf13, C7orf25, C7orf31, C7orf34, C7orf50, C7orf57, C7orf63, C7orf69, C7orf71, C7orf72, CADPS2, CALCR, CALD1, CALU, CARD11, CASD1, CAV1, CCDC129, CCDC136, CCDC146, CCM2, CCT6A, CCZ1, CCZ1B, CDCA7L, CDK13, CFTR, CHN2, CLCN1, CLIP2, CNOT4, CNTNAP2, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA1, CPA2, CPA4, CPA5, CPED1, CPSF4, CPVL, CREB3L2, CRHR2, CTTNBP2, CUX1, CYP2W1, CYP3A5, CYP3A7, CYTH3, DBNL, DDC, DDX56, DENND2A, DFNA5, DGKI, DMTF1, DNAH11, DNAJB6, DNAJC30, DPP6, DPY19L1, DTX2, DUS4L, EEPD1, EGFR, EIF2AK1, EIF3B, ELFN1, ELN, EN2, EPDR1, EPHA1, EPHB4, EPHB6, ERV3-1, ETV1, EXOC4, FAM115C, FAM126A, FAM180A, FAM185A, FAM20C, FAM71F2, FBXL13, FERD3L, FIGNL1, FKBP9, FLJ20306, FLNC, FOXK1, FOXP2, FSCN3, FZD9, GAL3ST4, GALNTL5, GARS, GATS, GET4, GIGYF1, GIMAP2, GIMAP5, GIMAP6, GIMAP7, GIMAP8, GLCCI1, GLI3, GNA12, GPR141, GPR146, GPR37, GPR85, GRB10, GRID2IP, GSAP, GTF2I, GTF2IRD2, GTPBP10, GUSB, HDAC9, HEATR2, HECW1, HERPUD2, HIBADH, HIPK2, HOXA1, HOXA10, HOXA4, HOXA7, HUS1, ICA1, IGF2BP3, IGFBP1, IGFBP3, IKZF1, INMT, INTS1, IQCE, IQUB, ISPD, JAZF1, KDELR2, KDM7A, KEL, KIAA0087, KIAA1324L, KIAA1549, KLF14, KLRG2, KMT2C, KMT2E, KPNA7, KRBA1, LAMB1, LAMB4, LAMTOR4, LANCL2, LHFPL3, LMOD2, LMTK2, LRCH4, LRGUK, LRRC17, LRRC4, LRRC61, LRRN3, LSM5, LUC7L2, MACC1, MAD1L1, MAGI2, MBLAC1, MCM7, MDFIC, MEOX2, MET, METTL2B, MGAM, MICALL2, MIOS, MLXIPL, MMD2, MPP6, MRPL32, MTERF, MTPN, MTURN, MUC12, MUC17, MUC3A, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NAT16, NCF1, NME8, NOBOX, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPVF, NPY, NRCAM, NRF1, NSUN5, NT5C3A, NUB1, NUDT1, NUP205, OGDH, OPN1SW, OR2A1, OR2A14, OR2A2, OR2A25, OR2A42, OR2A5, OR2AE1, OR6V1, ORAI2, OSBPL3, PARP12, PAX4, PAXIP1, PCLO, PDE1C, PDGFA, PEX1, PHF14, PHKG1, PHTF2, PIK3CG, PILRA, PKD1L1, PLXNA4, PMS2, PODXL, POLM, POM121, POM121C, POM121L12, POMZP3, PON1, POR, POT1, PP13004, PPP1R17, PPP1R3A, PRKAR1B, PRKAR2B, PRPS1L1, PRR15, PRRT4, PRSS1, PRSS37, PRSS58, PSMC2, PSPH, PTPN12, PTPRN2, PTPRZ1, PURB, PVRIG, RAB19, RADIL, RAMP3, RAPGEF5, RARRES2, RASA4, RBAK, RBAK-RBAKDN, RBM33, RBM48, RELN, REPIN1, RFC2, RHBDD2, RNF32, RP11-1220K2.2, RSBN1L, RSPH10B, RSPH10B2, SCIN, SDK1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SFRP4, SGCE, SH2B2, SKAP2, SLC12A9, SLC13A1, SLC13A4, SLC25A13, SLC26A3, SLC29A4, SLC35B4, SLC37A3, SLC4A2, SMO, SMURF1, SND1, SNX13, SNX8, SP8, SRCRB4D, SRRM3, SRRT, SSMEM1, ST7-OT4, STAG3, STEAP1, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STRA8, STX1A, STYXL1, SUGCT, SUMF2, SUN1, SVOPL, TAS2R16, TAS2R3, TAS2R38, TAS2R4, TAS2R40, TAS2R5, TBX20, TBXAS1, TFPI2, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM140, TMEM176A, TMEM178B, TMEM184A, TMEM213, TMEM60, TNPO3, TNRC18, TNS3, TPK1, TRBC2, TRBV10-1, TRBV11-1, TRBV19, TRBV2, TRBV20-1, TRBV23-1, TRBV25-1, TRBV27, TRBV30, TRBV4-1, TRBV5-4, TRBV5-5, TRBV5-6, TRBV5-7, TRBV6-4, TRBV6-5, TRBV6-6, TRBV6-7, TRBV6-8, TRBV6-9, TRBV7-1, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV7-8, TRBV9, TRGC1, TRGC2, TRGJ1, TRGJP2, TRGV11, TRGV2, TRGV3, TRGV4, TRGV5, TRGV9, TRIM4, TRIM50, TRIM56, TRIP6, TRPV5, TRPV6, TRRAP, TSC22D4, TSPAN12, TSPAN13, TSRM, TYW1B, UBE3C, UFSP1, UPK3B, URGCP, USP42, VIPR2, VOPP1, VPS41, VWC2, VWDE, WASL, WBSCR16, WBSCR27, WBSCR28, WDR60, WDR86, WDR91, WEE2, WIPI2, WNT16, YAE1D1, ZAN, ZBED6CL, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZCWPW1, ZMIZ2, ZNF107, ZNF117, ZNF138, ZNF3, ZNF394, ZNF398, ZNF425, ZNF467, ZNF479, ZNF680, ZNF713, ZNF775, ZNF804B, ZNF853, ZNF862, ZNF92, ZP3, ZSCAN21, ZYX,

Genes at Omim

ABCB1, ABCB4, ACHE, ADCY1, AKAP9, ANLN, ASB10, ASNS, ATP6V0A4, BLVRA, BMPER, CALCR, CARD11, CAV1, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, CYP3A5, DDC, DFNA5, DNAH11, DNAJB6, DPP6, EGFR, ELN, FAM126A, FAM20C, FLNC, FOXP2, GARS, GLCCI1, GLI3, GUSB, HEATR2, HOXA1, IKZF1, ISPD, KEL, LAMB1, MAD1L1, MET, MMD2, NCF1, NME8, NOBOX, NOS3, NPC1L1, NPSR1, NT5C3A, NUP205, OGDH, OPN1SW, PAX4, PCLO, PEX1, PMS2, PON1, POR, POT1, PPP1R3A, PRSS1, PSPH, PTPN12, PTPRZ1, RELN, SEMA3A, SEMA3E, SFRP4, SGCE, SLC25A13, SLC26A3, STAG3, TAS2R16, TAS2R38, TBX20, TBXAS1, TNPO3, TPK1, TSPAN12, WDR60,
ABCB1 {Colchicine resistance}, 120080 (3)
{Inflammatory bowel disease 13}, 612244 (3)
ABCB4 Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)
Cholestasis, progressive familial intrahepatic 3, 602347 (3)
Gallbladder disease 1, 600803 (3)
ACHE [Blood group, Yt system], 112100 (3)
ADCY1 ?Deafness, autosomal recessive 44, 610154 (3)
AKAP9 ?Long QT syndrome-11, 611820 (3)
ANLN Focal segmental glomerulosclerosis 8, 616032 (3)
ASB10 Glaucoma 1, open angle, F, 603383 (3)
ASNS Asparagine synthetase deficiency, 615574 (3)
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
BLVRA Hyperbiliverdinemia, 614156 (3)
BMPER Diaphanospondylodysostosis, 608022 (3)
CALCR {Osteoporosis, postmenopausal, susceptibility}, 166710 (3)
CARD11 B-cell expansion with NFKB and T-cell anergy, 616452 (3)
Immunodeficiency 11, 615206 (3)
CAV1 ?Lipodystrophy, congenital generalized, type 3, 612526 (3)
?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721 (3)
Pulmonary hypertension, primary, 3, 615343 (3)
CFTR Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
Sweat chloride elevation without CF (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
{Hypertrypsinemia, neonatal} (3)
{Pancreatitis, idiopathic}, 167800 (3)
CLCN1 Myotonia congenita, dominant, 160800 (3)
Myotonia congenita, recessive, 255700 (3)
Myotonia levior, recessive (3)
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
Pitt-Hopkins like syndrome 1, 610042 (3)
{Autism susceptibility 15}, 612100 (3)
COG5 Congenital disorder of glycosylation, type IIi, 613612 (3)
COL1A2 Ehlers-Danlos syndrome, cardiac valvular form, 225320 (3)
Ehlers-Danlos syndrome, type VIIB, 130060 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
{Osteoporosis, postmenopausal}, 166710 (3)
CYP3A5 {Hypertension, salt-sensitive essential, susceptibility to}, 145500 (3)
DDC Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
DFNA5 Deafness, autosomal dominant 5, 600994 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAJB6 Muscular dystrophy, limb-girdle, type 1E, 603511 (3)
DPP6 Mental retardation, autosomal dominant 33, 616311 (3)
{Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
EGFR ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
ELN Cutis laxa, AD, 123700 (3)
Supravalvar aortic stenosis, 185500 (3)
FAM126A Leukodystrophy, hypomyelinating, 5, 610532 (3)
FAM20C Raine syndrome, 259775 (3)
FLNC Cardiomyopathy, familial hypertrophic, 26 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Myopathy, distal, 4, 614065 (3)
Myopathy, myofibrillar, 5, 609524 (3)
FOXP2 Speech-language disorder-1, 602081 (3)
GARS Charcot-Marie-Tooth disease, type 2D, 601472 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
GLCCI1 {Glucocorticoid therapy, response to}, 614400 (3)
GLI3 Greig cephalopolysyndactyly syndrome, 175700 (3)
Pallister-Hall syndrome, 146510 (3)
Polydactyly, postaxial, types A1 and B, 174200 (3)
Polydactyly, preaxial, type IV, 174700 (3)
{Hypothalamic hamartomas, somatic}, 241800 (3)
GUSB Mucopolysaccharidosis VII, 253220 (3)
HEATR2 Ciliary dyskinesia, primary, 18, 614874 (3)
HOXA1 Athabaskan brainstem dysgenesis syndrome, 601536 (3)
Bosley-Salih-Alorainy syndrome, 601536 (3)
IKZF1 Immunodeficiency, common variable, 13, 616873 (3)
ISPD Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3)
KEL [Blood group, Kell], 110900 (3)
LAMB1 Lissencephaly 5, 615191 (3)
MAD1L1 Lymphoma, somatic (3)
Prostate cancer, somatic, 176807 (3)
MET ?Deafness, autosomal recessive 97, 616705 (3)
Hepatocellular carcinoma, childhood type, somatic, 114550 (3)
Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
{Osteofibrous dysplasia, susceptibility to}, 607278 (3)
MMD2 Miyoshi muscular dystrophy 2 (2)
NCF1 Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
NOBOX Premature ovarian failure 5, 611548 (3)
NOS3 {Hypertension, susceptibility to}, 145500 (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
{Coronary artery spasm 1, susceptibility to} (3)
{Hypertension, pregnancy-induced}, 189800 (3)
{Ischemic stroke, susceptibility to}, 601367 (3)
{Placental abruption} (3)
NPC1L1 [Ezetimibe, nonresponse to] (3)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)
NT5C3A Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)
NUP205 ?Nephrotic syndrome, type 13, 616893 (3)
OGDH Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)
OPN1SW Colorblindness, tritan, 190900 (3)
PAX4 Diabetes mellitus, type 2, 125853 (3)
Maturity-onset diabetes of the young, type IX, 612225 (3)
{Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
PEX1 Heimler syndrome 1, 234580 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PON1 {Coronary artery disease, susceptibility to} (3)
{Coronary artery spasm 2, susceptibility to (3)
{Microvascular complications of diabetes 5}, 612633 (3)
{Organophosphate poisoning, sensitivity to} (3)
POR Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)
POT1 {Glioma susceptibility 9}, 616568 (3)
{Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3)
PPP1R3A Insulin resistance, severe, digenic, 125853 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
PSPH Phosphoserine phosphatase deficiency, 614023 (3)
PTPN12 Colon cancer, somatic, 114500 (3)
PTPRZ1 {H. pylori infection, susceptibility to}, 600263 (1)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
SEMA3A {Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)
SEMA3E ?CHARGE syndrome, 214800 (3)
SFRP4 Pyle disease, 265900 (3)
SGCE Dystonia-11, myoclonic, 159900 (3)
SLC25A13 Citrullinemia, adult-onset type II, 603471 (3)
Citrullinemia, type II, neonatal-onset, 605814 (3)
SLC26A3 Diarrhea 1, secretory chloride, congenital, 214700 (3)
STAG3 Premature ovarian failure 8, 615723 (3)
TAS2R16 {Alcohol dependence}, 103780 (3)
TAS2R38 [Phenylthiocarbamide tasting], 171200 (3)
TBX20 Atrial septal defect 4, 611363 (3)
TBXAS1 ?Thromboxane synthase deficiency, 614158 (1)
Ghosal hematodiaphyseal syndrome, 231095 (3)
TNPO3 Muscular dystrophy, limb-girdle, type 1F, 608423 (3)
TPK1 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
TSPAN12 Exudative vitreoretinopathy 5, 613310 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)

Genes at Clinical Genomics Database

ABCB1, ABCB4, ACHE, ADCY1, AKAP9, ANLN, ASNS, ATP6V0A4, BBS9, BLVRA, BMPER, CARD11, CAV1, CCM2, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, CYP3A5, DDC, DFNA5, DNAH11, DNAJB6, DPP6, EGFR, ELN, FAM126A, FAM20C, FLNC, FOXP2, GARS, GLI3, GUSB, HOXA1, IKZF1, ISPD, KEL, LAMB1, MET, NCF1, NME8, NOBOX, NPC1L1, NT5C3A, NUP205, OPN1SW, PAX4, PEX1, PMS2, PON1, POR, POT1, PPP1R3A, PRSS1, PSPH, RELN, SEMA3A, SEMA3E, SGCE, SLC25A13, SLC26A3, STAG3, SUGCT, TAS2R38, TBX20, TBXAS1, TNPO3, TPK1, TRRAP, TSPAN12, WDR60,
ABCB1 Colchicine metabolism, association with
ABCB4 Gallbladder disease 1
Cholestasis, familial intrahepatic, of pregnancy
Cholestasis, oral contraceptives induced
Low phospholipid-associated cholelithiasis 1
Cholestasis, progressive familial intrahepatic 3
ACHE Blood group, Yt system
ADCY1 Deafness, autosomal dominant 44
AKAP9 Long QT syndrome 11
ANLN Focal segmental glomerulosclerosis 8
ASNS Asparagine synthetase deficiency
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive
BBS9 Bardet-Biedl syndrome 9
BLVRA Hyperbiliverdinemia
BMPER Diaphanospondylodysostosis
CARD11 Immunodeficiency 11
B-cell expansion with NFKB and T-cell anergy
CAV1 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
Lipodystrophy, congenital generalized, type 3
CCM2 Cerebral cavernous malformations 2
CFTR Cystic fibrosis
CLCN1 Myotonia congenita, autosomal recessive, Myotonia levior
Myotonia congenita, autosomal dominant
CNTNAP2 Pitt-Hopkins like syndrome 1
Cortical dysplasia-focal epilepsy syndrome
COG5 Congenital disorder of glycosylation, type IIi
COL1A2 Ehlers-Danlos syndrome, cardiac valvular form
CYP3A5 Drug metabolism, CYP3A5-related
DDC Aromatic l-amino acid decarboxylase deficiency
DFNA5 Deafness, autosomal dominant 5
DNAH11 Ciliary dyskinesia, primary, 7
DNAJB6 Muscular dystrophy, limb-girdle, type 1E
DPP6 Ventricular fibrillation, paroxysmal familial, 2
EGFR Inflammatory skin and bowel disease, neonatal, 2
Lung cancer, familial, susceptibilty to
Acute myeloid leukemia, familial
ELN Supravalvular aortic stenosis
Cutis laxa, autosomal dominant 1
FAM126A Leukodystrophy, hypomyelinating, 5
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FLNC Myopathy, myofibrillar, 5
Myopathy, distal, 4
FOXP2 Speech-language disorder 1
GARS Neuropathy, distal hereditary motor, type V
Charcot-Marie-Tooth disease, type 2D
GLI3 Polydactyly, postaxial, types A1 and B
Polydactyly, preaxial, type IV
Postaxial polydactyly type A1
Grieg cephalopolysndactyly syndrome
Pallister-Hall syndrome
Acrocallosal syndrome
GUSB Mucopolysaccharidosis type VII
HOXA1 Bosley-Salih-Alorainy syndrome
Athabaskan brainstem dysgenesis syndrome
IKZF1 Immunodeficiency, common variable, 13
ISPD Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
Muscular dystrophy-dystroglycanopathy (congenital, with brain and eye anomalies), type A, 7
KEL Blood group, Kell system
LAMB1 Lissencephaly 5
MET Deafness, autosomal recessive 97
Renal cell carcinoma, papillary
NCF1 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type I
NME8 Ciliary dyskinesia, primary, 6
NOBOX Premature ovarian failure 5
NPC1L1 Ezetimibe, nonresponse to
NT5C3A Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NUP205 Nephrotic syndrome, type 13
OPN1SW Tritanopia
PAX4 Diabetes mellitus
PEX1 Heimler syndrome 1
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
PON1 Clopidogrel treatment, sensitivity to
POR Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Antley-Bixler syndrome
POT1 Melanoma, cutaneous malignant, susceptibility to 10
Glioma susceptibility 9
PPP1R3A Insulin resistance, severe, digenic
PRSS1 Pancreatitis, hereditary
PSPH Phosphoserine phosphatase deficiency
RELN Lissencephaly 2
Epilepsy, familial temporal lobe, 7
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SEMA3E CHARGE syndrome
SGCE Dystonia 11, myoclonic
SLC25A13 Citrin deficiency
SLC26A3 Diarrhea 1, secretory chloride, congenital
STAG3 Premature ovarian failure 8
SUGCT Glutaric aciduria III
TAS2R38 Phenylthiocarbamide tasting
Thiourea tasting
TBX20 Atrial septal defect 4
TBXAS1 Ghosal hematodiaphyseal syndrome
TNPO3 Muscular dystrophy, limb-girdle, type 1F
TPK1 Thiamine metabolism dysfunction syndrome 5
TRRAP Schizophrenia
TSPAN12 Retinal dysplasia and severe familial exudative vitreoretinopathy
Exudative vitreoretinopathy 5
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 7003
Number of Genes: 505

Export to: CSV

ABCA13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs62447309
dbSNP
48559666 1415.77 G A . 0/1 105 SYNONYMOUS_CODING LOW SILENT 0.08586 0.08586 0.07670 None None None None None None None
View mm170241ct 7 rs6583448
dbSNP
48545976 1845.77 A G . 1/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00 None None None None None None None
View mm170241ct 7 rs1880736
dbSNP
48315796 2900.77 C A . 1/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81290 0.81290 0.30295 0.00 None None None None None None None
View mm170241ct 7 rs3931814
dbSNP
48349647 857.77 C T . 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10963 0.10960 0.11313 0.00 None None None None None None None
View mm170241ct 7 rs2222648
dbSNP
48318811 5200.77 C T . 1/1 141 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85224 0.85220 0.22580 0.00 None None None None None None None
View mm170241ct 7 rs1358066
dbSNP
48312674 4299.77 G A . 1/1 122 SYNONYMOUS_CODING LOW SILENT 0.57528 0.57530 0.49452 None None None None None None None
View mm170241ct 7 rs17132289
dbSNP
48428715 1418.77 A T . 0/1 108 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08566 0.08566 0.07975 0.69 None None None None None None None
View mm170241ct 7 rs17548783
dbSNP
48450157 967.77 T C . 0/1 103 SYNONYMOUS_CODING LOW SILENT 0.46266 0.46270 0.46629 None None None None None None None
View mm170241ct 7 rs61705907
dbSNP
48563913 2140.77 A G . 0/1 163 SYNONYMOUS_CODING LOW SILENT 0.08526 0.08526 0.08651 None None None None None None None
View mm170241ct 7 rs6583546
dbSNP
48336844 4744.77 C T . 1/1 137 SYNONYMOUS_CODING LOW SILENT 0.76897 0.76900 0.35105 None None None None None None None
View mm170241ct 7 rs61378229
dbSNP
48559696 1574.77 T C . 0/1 126 SYNONYMOUS_CODING LOW SILENT 0.08586 0.08586 0.07686 None None None None None None None
View mm170241ct 7 rs1880738
dbSNP
48285485 2579.77 C T . 1/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40655 0.40650 0.35164 0.00 None None None None None None None

ABCB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs2032582
dbSNP
87160618 1106.77 A C . 0/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04872 0.61700 0.32193 1.00 0.00 None None None None None None None
View mm170241ct 7 rs1045642
dbSNP
87138645 204.77 A G . 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.60483 0.60480 0.42334 None None None None None None None
View mm170241ct 7 rs1128503
dbSNP
87179601 880.77 A G . 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.58387 0.58390 0.35760 None None None None None None None

ABCB4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs2302387
dbSNP
87092185 1897.77 G A . 0/1 141 SYNONYMOUS_CODING LOW SILENT 0.25240 0.25240 0.24204 None None None None None None None
View mm170241ct 7 rs2109505
dbSNP
87079406 1106.77 T A . 0/1 74 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.26138 0.26140 0.22490 None None None None None None None

ABCB5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs11772720
dbSNP
20739465 2176.77 T C . 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.00579 0.00579 0.01531 None None None None None None None
View mm170241ct 7 rs62453384
dbSNP
20762646 1248.77 G T . 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23223 0.23220 0.29909 0.00 0.88 None None None None None None None
View mm170241ct 7 rs6461515
dbSNP
20778646 2036.77 G A . 1/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75679 0.75680 0.22620 0.13 0.34 None None None None None None None

ABCB8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs2303926
dbSNP
150733025 988.77 T A . 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.30052 0.30050 0.31816 None None None None None None None
View mm170241ct 7 rs11769256
dbSNP
150725972 233.77 C T . 0/1 16 None None None 0.10363 0.10360 0.13135 None None None None None None None
View mm170241ct 7 rs35900662
dbSNP
150734380 205.77 T C . 0/1 13 None None None 0.30172 0.30170 0.00 None None None None None None None

ABCF2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs55866446
dbSNP
150912020 719.77 T C . 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00160 0.00160 0.00400 0.01 0.20 None None None None None None None
View mm170241ct 7 rs6464133
dbSNP
150921950 1042.77 A G . 0/1 75 SYNONYMOUS_CODING LOW SILENT 0.73902 0.73900 0.28925 None None None None None None None
View mm170241ct 7 rs7782699
dbSNP
150915948 1027.77 C T . 0/1 78 SYNONYMOUS_CODING LOW SILENT 0.05371 0.05371 0.09534 None None None None None None None

ABHD11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs6460052
dbSNP
73151644 1677.77 A G . 1/1 49 SYNONYMOUS_CODING LOW SILENT 0.60463 0.60460 0.41458 None None None None None None None

AC004899.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs4404869
dbSNP
48887548 849.77 G C . 0/1 69 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58766 0.58770 0.00 None None None None None None None
View mm170241ct 7 rs1990076
dbSNP
48887627 247.77 C G . 0/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92832 0.92830 0.00 None None None None None None None

AC005008.2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs11972689
dbSNP
80805263 1980.77 C T . 0/1 143 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27756 0.27760 0.81 None None None None None None None

AC011294.3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs700747
dbSNP
46732428 4064.77 A G . 1/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99022 0.99020 0.00 None None None None None None None

AC021218.2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs2007015
dbSNP
155755826 763.77 A G . 1/1 27 SYNONYMOUS_CODING LOW SILENT 0.70647 0.70650 None None None None None None None
View mm170241ct 7 rs1551630
dbSNP
155757502 987.77 T C . 1/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96965 0.96960 0.00 None None None None None None None

AC073343.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs2243620
dbSNP
6713985 2853.77 A G . 0/1 255 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83486 0.83490 0.55 0.00 None None None None None None None

AC074389.6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs117250982
dbSNP
1733474 449.77 G A . 0/1 29 STOP_GAINED HIGH NONSENSE 0.00859 0.00859 None None None None None None None
View mm170241ct 7 . 1733423 524.77 C G . 0/1 34 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.32 None None None None None None None
View mm170241ct 7 rs56130225
dbSNP
1733192 1445.77 C T . 1/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08027 0.08027 0.00 0.21 None None None None None None None
View mm170241ct 7 rs79496824
dbSNP
1733182 1376.77 C T . 1/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12121 0.12120 0.00 0.00 None None None None None None None

AC091801.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs4634530
dbSNP
3197867 209.77 T C . 0/1 13 None None None 0.44828 0.44830 None None None None None None None
View mm170241ct 7 rs10951088
dbSNP
3205705 573.77 T G . 1/1 18 None None None 0.87101 0.87100 None None None None None None None
View mm170241ct 7 rs73672278
dbSNP
3197788 97.77 G C . 0/1 10 SYNONYMOUS_CODING LOW SILENT 0.09744 0.09744 None None None None None None None

AC110781.3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs1078112
dbSNP
1878453 339.77 T A . 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44449 0.44450 0.62 None None None None None None None
View mm170241ct 7 rs6957894
dbSNP
1887362 659.77 G A . 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40775 0.40770 0.93 None None None None None None None
View mm170241ct 7 rs73046334
dbSNP
1887037 281.77 T C . 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.15595 0.15600 None None None None None None None
View mm170241ct 7 rs6954673
dbSNP
1886937 577.77 C T . 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31749 0.31750 0.00 None None None None None None None
View mm170241ct 7 rs3889573
dbSNP
1878377 505.77 A G . 0/1 34 START_LOST HIGH MISSENSE 0.83646 0.83650 0.00 None None None None None None None

AC145676.2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs77670366
dbSNP
228768 1344.77 C T . 0/1 81 SYNONYMOUS_CODING LOW SILENT 0.03015 0.03015 None None None None None None None
View mm170241ct 7 rs73669604
dbSNP
228712 987.77 A G . 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09085 0.09085 0.00 None None None None None None None
View mm170241ct 7 rs73669603
dbSNP
228659 735.77 A G . 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13938 0.13940 0.00 None None None None None None None
View mm170241ct 7 rs79852140
dbSNP
228783 1394.77 G A . 0/1 83 SYNONYMOUS_CODING LOW SILENT 0.02915 0.02915 None None None None None None None

ACHE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs1799806
dbSNP
100488658 92.77 G C . 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26937 0.26940 0.34119 0.38 0.13 None None None None None None D

ADAM22

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs2279542
dbSNP
87564497 157.77 C G . 0/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63039 0.63040 0.36502 0.75 0.00 None None None None None None None

ADAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs10256887
dbSNP
940181 458.77 C T . 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86701 0.86700 0.12406 1.00 0.00 None None None None None None None

ADCY1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs45444695
dbSNP
45747949 186.77 G A . 0/1 20 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00859 0.00859 0.01038 0.42 0.03 None None None None None None None

AEBP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs13928
dbSNP
44153780 1261.77 A G . 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36861 0.36860 0.45610 1.00 0.00 None None None None None None None
View mm170241ct 7 rs2595701
dbSNP
44148553 1129.77 A G . 1/1 39 SYNONYMOUS_CODING LOW SILENT 0.78874 0.78870 0.25836 None None None None None None None
View mm170241ct 7 rs2537188
dbSNP
44147485 504.77 C A . 0/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35743 0.35740 0.36568 0.35 0.01 None None None None None None None

AGAP3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs6971966
dbSNP
150812493 33.77 G C . 0/1 4 None None None 0.82288 0.82290 None None None None None None None

AGBL3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs9656447
dbSNP
134719551 4496.77 C G . 1/1 131 SYNONYMOUS_CODING LOW SILENT 0.90974 0.90970 0.06855 None None None None None None None
View mm170241ct 7 rs6958457
dbSNP
134694939 34.74 T C . 1/1 2 None None None 0.91054 0.91050 1.00 0.00 None None None None None None None
View mm170241ct 7 rs4236655
dbSNP
134701856 11302.77 G C . 1/1 321 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91054 0.91050 0.06833 0.13 0.98 None None None None None None None

AGFG2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs78279132
dbSNP
100137085 153.77 G C . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04952 0.04952 0.02693 0.61 0.02 None None None None None None None

AGR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs4719480
dbSNP
16834551 2378.77 C A . 0/1 188 None None None 0.91633 0.91630 0.13063 0.00 0.00 None None None None None None None
View mm170241ct 7 rs6842
dbSNP
16834597 3052.77 A G . 0/1 249 SYNONYMOUS_CODING LOW SILENT 0.33546 0.33550 0.38490 None None None None None None None
View mm170241ct 7 rs4719482
dbSNP
16872913 1586.77 G A . 0/1 103 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.48363 0.48360 0.12 0.00 None None None None None None None

AHCYL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs4731565
dbSNP
128865130 692.77 C T . 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.29952 0.29950 None None None None None None None

AKAP9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs1989779
dbSNP
91632306 2429.77 C T . 0/1 165 SYNONYMOUS_CODING LOW SILENT 0.93590 0.93590 0.09365 None None None None None None None
View mm170241ct 7 rs35759833
dbSNP
91708898 3751.77 A G . 0/1 242 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06550 0.06550 0.09450 0.00 None None None None None None None
View mm170241ct 7 rs1063242
dbSNP
91714911 3752.77 C T . 1/1 107 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99880 0.99880 0.00261 0.00 None None None None None None None

AKR1B10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs4728329
dbSNP
134225827 1919.77 A G . 1/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96945 0.96940 0.06343 0.20 0.00 None None None None None None None

AKR1B15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs6467538
dbSNP
134264286 1014.77 C T . 0/1 52 SYNONYMOUS_CODING LOW SILENT 0.33566 0.33570 0.39942 None None None None None None None

AMPH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs1058655
dbSNP
38431481 125.77 C A . 0/1 16 SYNONYMOUS_CODING LOW SILENT 0.13239 0.13240 0.16223 None None None None None None None
View mm170241ct 7 rs2215955
dbSNP
38469039 1216.77 C A . 0/1 77 None None None 0.30611 0.30610 0.00 0.91 None None None None None None None
View mm170241ct 7 rs2392572
dbSNP
38468695 4301.77 C T . 1/1 122 None None None 0.89956 0.89960 0.77 0.00 None None None None None None None
View mm170241ct 7 rs1058656
dbSNP
38431436 87.77 C T . 0/1 13 SYNONYMOUS_CODING LOW SILENT 0.17891 0.17890 0.21590 None None None None None None None

AMZ1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs798565
dbSNP
2752152 262.77 G A . 0/1 22 SYNONYMOUS_CODING LOW SILENT 0.17971 0.17970 0.22122 None None None None None None None

ANKIB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs38794
dbSNP
92028039 3566.77 C A . 1/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43910 0.43910 0.44607 0.26 0.00 None None None None None None None

ANKMY2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs541797
dbSNP
16640491 2480.77 G A . 0/1 176 SYNONYMOUS_CODING LOW SILENT 0.17991 0.17990 0.16123 None None None None None None None

ANKRD61

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs12334093
dbSNP
6071115 1115.77 A G . 0/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11462 0.11460 0.10 0.01 None None None None None None None

ANLN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs61737563
dbSNP
36445855 1396.77 A C . 0/1 109 SYNONYMOUS_CODING LOW SILENT 0.04752 0.04752 None None None None None None None
View mm170241ct 7 rs572020591,rs197367
dbSNP
36445856 1300.77 G A . 0/1 107 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62061 0.62060 0.46094 1.00 0.00 None None None None None None None
View mm170241ct 7 rs143969069,rs374349756,rs61549495
dbSNP
36447349 6009.73 A ACTT . 0/1 255 CODON_INSERTION MODERATE 0.44948 0.44950 0.38393 None None None None None None None

AOAH

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs59476355
dbSNP
36552729 3239.73 A AT . 1/1 88 FRAME_SHIFT HIGH 0.99980 0.99980 None None None None None None None
View mm170241ct 7 rs57543920
dbSNP
36552790 2466.73 G GT . 1/1 66 FRAME_SHIFT HIGH 0.87740 0.87740 None None None None None None None
View mm170241ct 7 rs7790095
dbSNP
36729757 1674.77 T C . 1/1 54 None None None 0.82228 0.82230 None None None None None None None
View mm170241ct 7 rs2228410
dbSNP
36763672 875.77 C T . 0/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35104 0.35100 0.26703 0.24 0.00 None None None None None None None
View mm170241ct 7 rs2228411
dbSNP
36763688 1520.77 C T . 0/1 85 SYNONYMOUS_CODING LOW SILENT 0.37820 0.37820 0.41143 None None None None None None None

AOC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs10156191
dbSNP
150553605 2046.77 C T . 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31290 0.31290 0.34375 0.32 0.00 None None None None None None None
View mm170241ct 7 rs11771771
dbSNP
150557578 546.77 G A . 0/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06210 0.06210 0.08386 0.21 0.00 None None None None None None None
View mm170241ct 7 rs6943420
dbSNP
150556056 846.77 G C . 1/1 24 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None None
View mm170241ct 7 rs6943147
dbSNP
150556055 908.77 C G . 1/1 26 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.08 0.02 None None None None None None None

ARMC10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs14029,rs76777924
dbSNP
102738862 1060.77 T C . 0/1 128 SYNONYMOUS_CODING LOW SILENT 0.07627 None None None None None None None
View mm170241ct 7 rs7798381
dbSNP
102715804 148.77 C T . 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07348 0.07348 0.12 0.71 None None None None None None None

ASB10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs61735708
dbSNP
150878421 715.77 G C . 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00339 0.00340 0.00508 0.16 0.05 None None None None None None None
View mm170241ct 7 rs104886485
dbSNP
150878034 11.83 G A LowQual 1/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.34 None None None None None None None

ASB15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs6962756
dbSNP
123256427 2405.77 C T . 0/1 176 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77935 0.77940 0.21463 0.71 0.00 None None None None None None None
View mm170241ct 7 rs4731112
dbSNP
123269118 3518.77 G C . 0/1 262 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79173 0.79170 0.28033 1.00 0.00 None None None None None None None
View mm170241ct 7 rs11769381
dbSNP
123264804 1291.77 C T . 0/1 83 SYNONYMOUS_CODING LOW SILENT 0.46965 0.46960 0.40997 None None None None None None None

ASIC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs11977275
dbSNP
150747937 444.77 C A . 0/1 39 SYNONYMOUS_CODING LOW SILENT 0.14357 0.14360 0.19425 None None None None None None None

ASNS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 7 rs1049674
dbSNP
97488569 997.77 A T . 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87600 0.87600 0.19922 1.00 0.00 None None None None None None None