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Genes:
A2M, A2ML1, AAAS, AACS, ABCC9, ABCD2, AC068987.1, AC092850.1, ACACB, ACAD10, ACADS, ADAMTS20, ADCY6, ADIPOR2, AGAP2, AICDA, AKAP3, ALG10B, AMDHD1, AMIGO2, ANHX, ANKLE2, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO4, APOBEC1, APOLD1, AQP2, ARF3, ARHGAP9, ARHGDIB, ARHGEF25, ARNTL2, ART4, ASCL1, ASCL4, ASIC1, ASUN, ATF1, ATF7IP, ATN1, ATP2B1, ATP5G2, ATP6V0A2, ATXN2, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT3, BCL2L14, BEST3, BIN2, BTBD11, C12orf10, C12orf29, C12orf4, C12orf42, C12orf43, C12orf44, C12orf5, C12orf54, C12orf55, C12orf56, C12orf60, C12orf66, C12orf68, C12orf71, C12orf77, C12orf79, C1R, C1RL, C1S, C2CD5, CABP1, CACNA1C, CACNA2D4, CACNB3, CAMKK2, CAND1, CAPRIN2, CASC1, CCDC38, CCDC41, CCDC59, CCDC60, CCDC77, CCDC91, CCDC92, CCND2, CCNT1, CD163, CD163L1, CD27, CD4, CDK2, CELA1, CEP290, CERS5, CHD4, CHFR, CIT, CLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2D, CLEC4A, CLEC4C, CLEC7A, CLEC9A, CLIP1, CLLU1, CLSTN3, CMKLR1, CNTN1, COL2A1, COPS7A, COQ5, CPM, CPSF6, CRADD, CRY1, CSRP2, CTDSP2, CUX2, DAZAP2, DCD, DCP1B, DDN, DDX11, DDX23, DDX51, DDX55, DENND5B, DGKA, DHX37, DIP2B, DNAH10, DNAH10OS, DNM1L, DPPA3, DPY19L2, DTX3, DUSP6, DYRK2, DYRK4, E2F7, EEA1, EFCAB4B, EIF2S3L, EIF4B, EMG1, ERBB3, ERP27, ESPL1, ETV6, FAM109A, FAM186A, FAM90A1, FAR2, FBRSL1, FBXW8, FGD4, FGD6, FGF23, FGF6, FOXM1, FOXN4, FRS2, FZD10, GALNT4, GALNT8, GALNT9, GAS2L3, GCN1L1, GLI1, GLIPR1, GNB3, GNS, GOLGA3, GPD1, GPR133, GPR162, GPR19, GPRC5A, GPRC5D, GRIN2B, GRIP1, GSG1, GTF2H3, GUCY2C, GXYLT1, GYS2, H1FNT, H3F3C, HAL, HCAR3, HDAC7, HECTD4, HELB, HIP1R, HNF1A, HOXC11, HOXC9, HPD, HSP90B1, IFLTD1, IKBIP, IPO8, IQSEC3, IRAK3, ISCU, ITGA5, ITGA7, ITPR2, KANSL2, KCNA1, KCNA5, KCNH3, KCTD10, KDM5A, KERA, KIAA1033, KIAA1467, KIAA1551, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KMT2D, KNTC1, KRAS, KRR1, KRT1, KRT2, KRT3, KRT4, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT86, KSR2, LAG3, LDHB, LEPREL2, LETMD1, LGR5, LPAR5, LRMP, LRP1, LRP6, LRRC23, LRRC43, LRRK2, LTBR, MAGOHB, MANSC1, MANSC4, MARCH9, MDM1, MED13L, MED21, METTL25, MFSD5, MGP, MLF2, MLXIP, MMAB, MMP17, MMP19, MON2, MORN3, MPHOSPH9, MUC19, MUCL1, MVK, MYBPC1, MYO1H, MYRFL, NABP2, NACA, NANOG, NAP1L1, NAV3, NCKAP1L, NCOR2, NELL2, NOS1, NT5DC3, NTF3, NTN4, NUAK1, NXPH4, OASL, OGFOD2, OR10AD1, OR10P1, OR6C1, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C76, OR8S1, ORAI1, OS9, OTOGL, OVCH1, OVCH1-AS1, P2RX2, P2RX4, P2RX7, PAH, PAN2, PARPBP, PAWR, PDE1B, PDE3A, PDZRN4, PFKM, PHB2, PHC1, PHLDA1, PIK3C2G, PIP4K2C, PLA2G1B, PLBD1, PLBD2, PLCZ1, PLEKHG6, PLEKHG7, PLXNC1, PMEL, POLE, POLR3B, POP5, PPFIA2, PPFIBP1, PPHLN1, PPP1R1A, PPTC7, PRB1, PRB2, PRB4, PRH1, PRH2, PRICKLE1, PRIM1, PRMT8, PRR4, PSMD9, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PWP1, PXMP2, PXN, PZP, R3HDM2, RAPGEF3, RASAL1, RBM19, RBMS2, RBP5, REP15, RERG, RERGL, RFX4, RHOF, RILPL1, RIMBP2, RIMKLB, RNFT2, RP1-228P16.5, RP11-1105G2.3, RP11-181C3.1, RPAP3, SART3, SBNO1, SCAF11, SCARB1, SCN8A, SCNN1A, SCYL2, SENP1, SETD1B, SETD8, SFSWAP, SH2B3, SLC11A2, SLC15A4, SLC15A5, SLC26A10, SLC2A14, SLC38A2, SLC38A4, SLC5A8, SLC6A12, SLC6A13, SLC8B1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SOAT2, SP7, SPRYD4, SRGAP1, SSH1, SSPN, ST8SIA1, STAB2, STK38L, STX2, STYK1, SUOX, SYT1, SYT10, TAOK3, TAPBPL, TAS2R10, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R8, TAS2R9, TBC1D15, TBK1, TCP11L2, TCTN2, TDG, TENC1, TESPA1, TIMELESS, TMCC3, TMED2, TMEM106C, TMEM132B, TMEM132C, TMEM132D, TMEM19, TMEM233, TMEM52B, TMPRSS12, TMTC1, TMTC3, TNFRSF1A, TPH2, TRPV4, TSPAN11, TSPAN9, TUBA1C, TXNRD1, UBC, UBE3B, UHRF1BP1L, ULK1, USP15, USP30, USP5, UTP20, VAMP1, VDR, VEZT, VSIG10, VWF, WDR66, WIBG, WIF1, WNK1, YARS2, ZDHHC17, ZFC3H1, ZNF140, ZNF26, ZNF268, ZNF384, ZNF705A, ZNF84,

Genes at Omim

A2M, A2ML1, AAAS, ABCC9, ACADS, ADCY6, AICDA, ALG10B, ANKLE2, AQP2, ART4, ASCL1, ATN1, ATP6V0A2, ATXN2, C12orf4, C1R, C1S, CACNA1C, CACNA2D4, CCND2, CD27, CD4, CEP290, CHD4, CIT, CLEC1A, CLEC7A, CNTN1, COL2A1, CRADD, CRY1, CUX2, DDX11, DIP2B, DNM1L, DPY19L2, DUSP6, EMG1, ERBB3, ETV6, FGD4, FGF23, GLI1, GNB3, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, IRAK3, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT4, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MGP, MMAB, MMP19, MVK, MYBPC1, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, PLCZ1, POLE, POLR3B, PRICKLE1, PTPRO, PTPRQ, SCARB1, SCN8A, SCNN1A, SH2B3, SLC11A2, SLCO1B1, SLCO1B3, SP7, SRGAP1, SUOX, SYT1, TBK1, TCTN2, TMTC3, TNFRSF1A, TPH2, TRPV4, UBE3B, VAMP1, VDR, VWF, WDR66, WNK1, YARS2,
A2M Alpha-2-macroglobulin deficiency, 614036 (1)
{Alzheimer disease, susceptibility to}, 104300 (3)
A2ML1 {Otitis media, susceptibility to}, 166760 (3)
AAAS Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
ABCC9 Atrial fibrillation, familial, 12, 614050 (3)
Cardiomyopathy, dilated, 1O, 608569 (3)
Hypertrichotic osteochondrodysplasia, 239850 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ADCY6 ?Lethal congenital contracture syndrome 8, 616287 (3)
AICDA Immunodeficiency with hyper-IgM, type 2, 605258 (3)
ALG10B {Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3)
ANKLE2 ?Microcephaly 16, primary, autosomal recessive, 616681 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ART4 [Blood group, Dombrock], 616060 (3)
ASCL1 Haddad syndrome, 209880 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Wrinkly skin syndrome, 278250 (3)
ATXN2 {Parkinson disease, late-onset, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 2, 183090 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
C12orf4 Mental retardation, autosomal recessive 66, 618221 (3)
C1R Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3)
C1S C1s deficiency, 613783 (3)
Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3)
CACNA1C Brugada syndrome 3, 611875 (3)
Timothy syndrome, 601005 (3)
CACNA2D4 Retinal cone dystrophy 4, 610478 (3)
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)
CD27 Lymphoproliferative syndrome 2, 615122 (3)
CD4 OKT4 epitope deficiency, 613949 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
CHD4 Sifrim-Hitz-Weiss syndrome, 617159 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLEC1A {Aspergillosis, susceptibility to}, 614079 (3)
CLEC7A Candidiasis, familial, 4, autosomal recessive, 613108 (3)
{Aspergillosis, susceptibility to}, 614079 (3)
CNTN1 ?Myopathy, congenital, Compton-North, 612540 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
CRADD Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3)
CRY1 {Delayed sleep phase disorder, susceptibility to}, 614163 (3)
CUX2 Epileptic encephalopathy, early infantile, 67, 618141 (3)
DDX11 Warsaw breakage syndrome, 613398 (3)
DIP2B Mental retardation, FRA12A type, 136630 (3)
DNM1L Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3)
Optic atrophy 5, 610708 (3)
DPY19L2 Spermatogenic failure 9, 613958 (3)
DUSP6 Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
ERBB3 ?Lethal congenital contractural syndrome 2, 607598 (3)
{?Erythroleukemia, familial, susceptibility to}, 133180 (3)
ETV6 Leukemia, acute myeloid, somatic, 601626 (3)
Thrombocytopenia 5, 616216 (3)
FGD4 Charcot-Marie-Tooth disease, type 4H, 609311 (3)
FGF23 Hypophosphatemic rickets, autosomal dominant, 193100 (3)
Osteomalacia, tumor-induced (1)
Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3)
GLI1 Polydactyly, postaxial, type A8, 618123 (3)
GNB3 {Hypertension, essential, susceptibility to}, 145500 (3)
Night blindness, congenital stationary, type 1H, 617024 (3)
GNS Mucopolysaccharidosis type IIID, 252940 (3)
GPD1 Hypertriglyceridemia, transient infantile, 614480 (3)
GRIN2B Epileptic encephalopathy, early infantile, 27, 616139 (3)
Mental retardation, autosomal dominant 6, 613970 (3)
GRIP1 Fraser syndrome 3, 617667 (3)
GUCY2C Diarrhea 6, 614616 (3)
Meconium ileus, 614665 (3)
GYS2 Glycogen storage disease 0, liver, 240600 (3)
HAL [Histidinemia], 235800 (3)
HNF1A Hepatic adenoma, somatic, 142330 (3)
Diabetes mellitus, insulin-dependent, 20, 612520 (3)
MODY, type III, 600496 (3)
Renal cell carcinoma, 144700 (3)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
HPD Hawkinsinuria, 140350 (3)
Tyrosinemia, type III, 276710 (3)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
ISCU Myopathy with lactic acidosis, hereditary, 255125 (3)
ITGA7 Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)
ITPR2 ?Anhidrosis, isolated, with normal sweat glands, 106190 (3)
KCNA1 Episodic ataxia/myokymia syndrome, 160120 (3)
KCNA5 Atrial fibrillation, familial, 7, 612240 (3)
KERA Cornea plana 2, autosomal recessive, 217300 (3)
KMT2D Kabuki syndrome 1, 147920 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
KRT1 Ichthyosis histrix, Curth-Macklin type, 146590 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
Keratosis palmoplantaris striata III, 607654 (3)
Palmoplantar keratoderma, epidermolytic, 144200 (3)
Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)
KRT4 White sponge nevus 1, 193900 (3)
KRT6A Pachyonychia congenita 3, 615726 (3)
KRT6B Pachyonychia congenita 4, 615728 (3)
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3)
KRT71 ?Hypotrichosis 13, 615896 (3)
KRT74 ?Ectodermal dysplasia 7, hair/nail type, 614929 (3)
?Hypotrichosis 3, 613981 (3)
Woolly hair, autosomal dominant, 194300 (3)
KRT75 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
KRT8 Cirrhosis, cryptogenic, 215600 (3)
{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
KRT81 Monilethrix, 158000 (3)
KRT83 Erythrokeratodermia variabilis et progressiva 5, 617756 (3)
Monilethrix, 158000 (3)
KRT86 Monilethrix, 158000 (3)
LDHB [Lactate dehydrogenase-B deficiency], 614128 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MED13L Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3)
Transposition of the great arteries, dextro-looped 1, 608808 (3)
MGP Keutel syndrome, 245150 (3)
MMAB Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
MMP19 Cavitary optic disc anomalies, 611543 (3)
MVK Hyper-IgD syndrome, 260920 (3)
Mevalonic aciduria, 610377 (3)
Porokeratosis 3, multiple types, 175900 (3)
MYBPC1 Arthrogryposis, distal, type 1B, 614335 (3)
Lethal congenital contracture syndrome 4, 614915 (3)
ORAI1 Immunodeficiency 9, 612782 (3)
Myopathy, tubular aggregate, 2, 615883 (3)
OTOGL Deafness, autosomal recessive 84B, 614944 (3)
P2RX2 Deafness, autosomal dominant 41, 608224 (3)
PAH Phenylketonuria, 261600 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PDE3A Hypertension and brachydactyly syndrome, 112410 (3)
PFKM Glycogen storage disease VII, 232800 (3)
PHC1 ?Microcephaly 11, primary, autosomal recessive, 615414 (3)
PLCZ1 ?Spermatogenic failure 17, 617214 (3)
POLE IMAGE-I syndrome, 618336 (3)
FILS syndrome, 615139 (3)
{Colorectal cancer, susceptibility to, 12}, 615083 (3)
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
PRICKLE1 Epilepsy, progressive myoclonic 1B, 612437 (3)
PTPRO Nephrotic syndrome, type 6, 614196 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
SCARB1 [High density lipoprotein cholesterol level QTL6], 610762 (3)
SCN8A Cognitive impairment with or without cerebellar ataxia, 614306 (3)
Epileptic encephalopathy, early infantile, 13, 614558 (3)
?Myoclonus, familial, 2, 618364 (3)
Seizures, benign familial infantile, 5, 617080 (3)
SCNN1A Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)
?Liddle syndrome 3, 618126 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SH2B3 Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
SLC11A2 Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)
SLCO1B1 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SP7 Osteogenesis imperfecta, type XII, 613849 (3)
SRGAP1 {Thyroid cancer, nonmedullary, 2}, 188470 (3)
SUOX Sulfite oxidase deficiency, 272300 (3)
SYT1 Baker-Gordon syndrome, 618218 (3)
TBK1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3)
TCTN2 Joubert syndrome 24, 616654 (3)
?Meckel syndrome 8, 613885 (3)
TMTC3 Lissencephaly 8, 617255 (3)
TNFRSF1A {Multiple sclerosis, susceptibility to, 5}, 614810 (3)
Periodic fever, familial, 142680 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
TRPV4 Brachyolmia type 3, 113500 (3)
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
Digital arthropathy-brachydactyly, familial, 606835 (3)
Metatropic dysplasia, 156530 (3)
Parastremmatic dwarfism, 168400 (3)
?Avascular necrosis of femoral head, primary, 2, 617383 (3)
SED, Maroteaux type, 184095 (3)
Scapuloperoneal spinal muscular atrophy, 181405 (3)
Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
[Sodium serum level QTL 1], 613508 (3)
UBE3B Kaufman oculocerebrofacial syndrome, 244450 (3)
VAMP1 Myasthenic syndrome, congenital, 25, 618323 (3)
Spastic ataxia 1, autosomal dominant, 108600 (3)
VDR ?Osteoporosis, involutional, 166710 (1)
Rickets, vitamin D-resistant, type IIA, 277440 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WDR66 Spermatogenic failure 33, 618152 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)

Genes at Clinical Genomics Database

A2M, AAAS, ABCC9, ACADS, ADCY6, AICDA, ANKLE2, AQP2, ART4, ASCL1, ATN1, ATP6V0A2, ATXN2, C1S, CACNA1C, CACNA2D4, CCND2, CD27, CD4, CEP290, CHD4, CLEC7A, CNTN1, COL2A1, CRADD, DDX11, DIP2B, DNM1L, DPY19L2, DUSP6, EMG1, ERBB3, ETV6, FGD4, FGF23, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIAA1033, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT4, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MGP, MMAB, MMP19, MVK, MYBPC1, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, POLE, POLR3B, PRICKLE1, PTPRO, PTPRQ, SART3, SCN8A, SCNN1A, SLC11A2, SLCO1B1, SLCO1B3, SP7, SUOX, TBK1, TCTN2, TNFRSF1A, TRPV4, UBE3B, VAMP1, VDR, VWF, WNK1, YARS2,
A2M Alpha-2-macroglobulin deficiency
AAAS Achalasia-addisonianism-alacrimia syndrome
ABCC9 Cardiomyopathy, dilated, 10
Atrial fibrillation, familial 12
Cantu syndrome
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ADCY6 Lethal congenital contracture syndrome 8
AICDA Immunodeficiency with hyper-IgM, type 2
ANKLE2 Microcephaly, primary autosomal recessive, 16
AQP2 Diabetes insipidus, nephrogenic, autosomal
ART4 Blood group, Dombrock
ASCL1 Central hypoventilation syndrome, congenital (Haddad syndrome)
ATN1 Dentatorubro-pallidoluysian atrophy
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
ATXN2 Spinocerebellar ataxia 2
C1S Complement component C1s deficiency
CACNA1C Brugada syndrome 3
Timothy syndrome
CACNA2D4 Retinal cone dystrophy 4
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CD27 Lymphoproliferative syndrome 2
CD4 OKT4 epitope deficiency
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CHD4 Schizophrenia
CLEC7A Candidiasis, familial, 4
CNTN1 Myopathy, congenital, Compton-North
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
CRADD Mental retardation, autosomal recessive 34
DDX11 Warsaw breakage syndrome
DIP2B Mental retardation, FRA12A type
DNM1L Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
DPY19L2 Spermatogenic failure 9
Globozoospermia
DUSP6 Hypogonadotropic hypogonadism 19, with or without anosmia
EMG1 Bowen-Conradi syndrome
ERBB3 Lethal congenital contractural syndrome 2
ETV6 Thrombocytopenia 5
FGD4 Charcot-Marie-Tooth disease, type 4H
FGF23 Hypophosphatemic rickets, autosomal dominant
Tumoral calcinosis, hyperphosphatemic
GNS Mucopolysaccharidosis IIID (Sanfilippo syndrome D)
GPD1 Hypertriglyceridemia, transient infantile
GRIN2B Mental retardation, autosomal dominant 6
Epileptic encephalopathy, early infantile 27
GRIP1 Fraser syndrome
GUCY2C Diarrhea 6
Meconium ileus
GYS2 Glycogen storage disease, type 0, liver
HAL Histidinemia
HNF1A Renal cell carcinoma, nonpapillary clear cell
Liver adenomatosis
Maturity onset diabetes of the young, type III
HPD Tyrosinemia, type III
Hawksinuria
ISCU Myopathy with lactic acidosis, hereditary
ITGA7 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
ITPR2 Anhidrosis, isolated, with normal sweat glands (Dann-Epstein-Sohar syndrome)
KCNA1 Episodic ataxia, type 1/myokymia syndrome
KCNA5 Atrial fibrillation, familial, 7
KERA Cornea plana 2, autosomal recessive
KIAA1033 Mental retardation, autosomal recessive 43
KMT2D Kabuki syndrome 1
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
KRT1 Keratosis palmoplantaris striata III
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Ichthyosis histrix, Curth-Macklin type
Palmoplantar keratoderma, epidermolytic
Palmoplantar keratoderma, nonepidermolytic
Epidermolytic hyperkeratosis
KRT2 Ichthyosis bullosa of Siemens
Ichthyosis exfoliativa
KRT3 Meesmann corneal dystrophy
KRT4 White sponge nevus 1
KRT6A Pachyonychia congenita 3
KRT6B Pachyonychia congenita 4
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
KRT71 Hypotrichosis 13
KRT74 Ectodermal dysplasia 7, hair/nail type
Hypotrichosis 3
Woolly hair, autosomal dominant
KRT75 Pseudofolliculitis barbae
KRT81 Monilethrix
KRT83 Monilethrix
KRT86 Monilethrix
LDHB Lactate dehydrogenase B deficiency
LRP1 Schizophrenia
LRP6 Coronary artery disease, autosomal dominant 2
LRRK2 Parkinson disease 8
Dementia, Lewy body
MED13L Transposition of the great arteries, dextro-looped 1
Mental retardation and distinctive facial features with or without cardiac defects
Congenital heart defects and intellectual disability
Intellectual disability, autosomal recessive
MGP Keutel syndrome
MMAB Methylmalonic acidemia, cblB type
MMP19 Cavitary optic disc anomalies
MVK Mevalonic aciduria
Hyper-IgD syndrome
MYBPC1 Arthrogryposis, distal, type 1B
Lethal congenital contractural syndrome 4
ORAI1 Immunodeficiency 9
OTOGL Deafness, autosomal recessive 84B
P2RX2 Deafness, autosomal dominant 41
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
PDE3A Hypertension with brachydactyly
PFKM Glycogen storage disease VII
PHC1 Primary microcephaly 11
POLE Colorectal cancer, susceptibility to, 12
Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
PRICKLE1 Epilepsy, progressive myoclonic, 1B
PTPRO Nephrotic syndrome, type 6
PTPRQ Deafness, autosomal recessive 84
SART3 Porokeratosis, disseminated superficial actinic, 1
SCN8A Cognitive impairment with or without cerebellar ataxia
Epileptic encephalopathy, early infantile, 13
SCNN1A Pseudohypoaldosteronism, type I
Bronchiectasis with or without elevated sweat chloride 2
SLC11A2 Anemia, hypochromic microcytic, with iron overload
SLCO1B1 Statin-induced myopathy
Hyperbilirubinemia, Rotor type, digenic
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic
SP7 Osteogenesis imperfecta, type XII
SUOX Sulfocysteinuria
TBK1 Herpes simplex encephalitis
TCTN2 Joubert syndrome 24
Meckel syndrome 8
TNFRSF1A Periodic fever, familial (TNF receptor-associated periodic syndrome)
TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive
Brachyolmia type 3
Metatropic dysplasia
Spondyloepiphyseal dysplasia, Maroteaux type
Scapuloperoneal spinal muscular atrophy
Hereditary motor and sensory neuropathy, type Iic
Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Digital arthropathy-brachydactyly, familial
UBE3B Blepharophimosis-Ptosis-Intellectual-Disability syndrome (Kaufman oculocerebrofacial syndrome)
VAMP1 Spastic ataxia 1, autosomal dominant
VDR Vitamin D-dependent rickets, type 2A
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2

Genes at HGMD

Summary

Number of Variants: 8622
Number of Genes: 516

Export to: CSV

A2M

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 combined sample_70.variant31 12 rs226405
dbSNP Clinvar
9248233 3124.49 T C PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.99780 0.99780 0.00235 0.91 0.00 None None None None None None A2M|0.10920489|49.36%

A2ML1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs1860927
dbSNP Clinvar
9004512 4242.92 G A PASS 1/1 160 SYNONYMOUS_CODING LOW None 0.86821 0.86820 0.19218 None None None None None None A2ML1|0.011663794|79.48%
View combined sample_70.variant31 12 rs1860967
dbSNP Clinvar
9013755 3185.77 C T PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.43231 0.43230 0.30165 0.02 0.67 None None None None None None A2ML1|0.011663794|79.48%
View combined sample_70.variant31 12 rs10219561
dbSNP Clinvar
9016573 3922.15 A G PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.96785 0.96790 0.03189 0.54 0.00 None None None None None None A2ML1|0.011663794|79.48%
View combined sample_70.variant31 12 rs7308811
dbSNP Clinvar
9020489 3585.57 A G PASS 1/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.85264 0.85260 0.22254 0.57 0.00 None None None None None None A2ML1|0.011663794|79.48%
View combined sample_70.variant31 12 rs1476910
dbSNP Clinvar
9020912 2671.54 A G PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.67772 0.67770 0.25352 None None None None None None A2ML1|0.011663794|79.48%
View combined sample_70.variant31 12 rs1860926
dbSNP Clinvar
9004892 3943.41 C A PASS 1/1 177 NON_SYNONYMOUS_CODING MODERATE None 0.96605 0.96610 0.03530 1.00 0.00 None None None None None None A2ML1|0.011663794|79.48%

AAAS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs1546808
dbSNP Clinvar
53703021 934.89 G A PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.91534 0.91530 0.09373 None None None None None None AAAS|0.160423573|41.47%

AACS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs7303092
dbSNP Clinvar
125562809 2851.29 G A PASS 1/1 134 None None None 0.98582 0.98580 0.67 0.00 None None None None None None AACS|0.059537921|60.03%

ABCC9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs10770865
dbSNP Clinvar
22063115 2026.33 A G PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.99720 0.99720 0.00354 None None None None None None ABCC9|0.261420458|30.64%

ABCD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs117275340
dbSNP Clinvar
40013392 1918.74 G C PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.01438 0.01438 0.01476 0.02 0.02 None None None None None None ABCD2|0.178478666|39.2%

AC068987.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs172559
dbSNP Clinvar
52204246 2561.95 T C PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.83846 0.83850 None None None None None None SCN8A|0.812099433|5.53%

AC092850.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs73151964
dbSNP Clinvar
131781552 99.33 C T PASS 0/1 78 SYNONYMOUS_CODING LOW None None None None None None None None
View combined sample_70.variant31 12 rs147113674
dbSNP Clinvar
131781445 1609.66 G A PASS 0/1 176 NON_SYNONYMOUS_CODING MODERATE None 0.09205 0.09205 0.00 0.00 None None None None None None None

ACACB

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs2300455
dbSNP Clinvar
109623516 1130.17 G A PASS 0/1 113 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.15955 0.15950 0.14624 0.04 0.48 None None None None None None ACACB|0.108212697|49.54%
View combined sample_70.variant31 12 rs3742023
dbSNP Clinvar
109693982 284.07 C T PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.25519 0.25520 0.28933 None None None None None None ACACB|0.108212697|49.54%
View combined sample_70.variant31 12 rs11065772
dbSNP Clinvar
109617865 1130.28 T C PASS 1/1 66 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%
View combined sample_70.variant31 12 rs4766516
dbSNP Clinvar
109605730 734.02 C T PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.23163 0.23160 0.15708 None None None None None None ACACB|0.108212697|49.54%
View combined sample_70.variant31 12 rs2241220
dbSNP Clinvar
109675029 907.46 T C PASS 1/1 123 SYNONYMOUS_CODING LOW None 0.77915 0.77920 0.19699 None None None None None None ACACB|0.108212697|49.54%
View combined sample_70.variant31 12 rs2878960
dbSNP Clinvar
109577735 1667.95 C T PASS 0/1 182 SYNONYMOUS_CODING LOW None 0.39776 0.39780 0.45448 None None None None None None ACACB|0.108212697|49.54%
View combined sample_70.variant31 12 rs2075260
dbSNP Clinvar
109696838 1130.02 G A PASS 1/1 186 NON_SYNONYMOUS_CODING MODERATE None 0.73882 0.73880 0.21898 1.00 0.00 None None None None None None ACACB|0.108212697|49.54%
View combined sample_70.variant31 12 rs7135947
dbSNP Clinvar
109629457 5169.13 C T PASS 0/1 187 SYNONYMOUS_CODING LOW None 0.38139 0.38140 0.44503 None None None None None None ACACB|0.108212697|49.54%

ACAD10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs34245489
dbSNP Clinvar
112186274 555.8 C T PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.01358 0.01358 0.03176 0.04 0.77 None None None None None None ACAD10|0.026374196|71.16%

ACADS

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 combined sample_70.variant31 12 rs3914
dbSNP Clinvar
121174899 1516.31 T C PASS 0/1 161 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%
View combined sample_70.variant31 12 rs555404
dbSNP Clinvar
121175984 1540.41 T C PASS 0/1 164 None None None 0.59385 0.59380 0.03 0.00 None None None None None None ACADS|0.070436549|57.39%
View combined sample_70.variant31 12 rs3915
dbSNP Clinvar
121176679 1844.43 C T PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.67312 0.67310 0.40804 None None None None None None ACADS|0.070436549|57.39%

ADAMTS20

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs11182088
dbSNP Clinvar
43860526 887.4 A G PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.43171 0.43170 0.31244 None None None None None None ADAMTS20|0.033294654|68.04%

ADCY6

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 combined sample_70.variant31 12 rs3730071
dbSNP Clinvar
49168798 1511.18 C A PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.00799 0.00799 0.02207 0.10 0.34 None None None None None None ADCY6|0.441849668|18.58%

ADIPOR2

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 combined sample_70.variant31 12 rs35854772
dbSNP Clinvar
1893077 1440.79 C A PASS 0/1 148 SYNONYMOUS_CODING LOW None 0.10244 0.10240 0.14647 None None None None None None ADIPOR2|0.349639817|24.16%
View combined sample_70.variant31 12 rs9805042
dbSNP Clinvar
1893170 723.98 C T PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.23742 0.23740 0.24050 None None None None None None ADIPOR2|0.349639817|24.16%
View combined sample_70.variant31 12 rs16928751
dbSNP Clinvar
1890199 1452.08 G A PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.10623 0.10620 0.14939 None None None None None None ADIPOR2|0.349639817|24.16%

AGAP2

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 combined sample_70.variant31 12 rs17852479
dbSNP Clinvar
58126234 5642.92 C A PASS 1/1 174 SYNONYMOUS_CODING LOW None 0.21566 0.21570 0.31812 None None None None None None AGAP2|0.196777896|37.07%

AICDA

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 combined sample_70.variant31 12 rs2028373
dbSNP Clinvar
8757481 222.57 G A PASS 1/1 16 SYNONYMOUS_CODING LOW None 0.48423 0.48420 0.45065 None None None None None None AICDA|0.345530644|24.45%

AKAP3

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 combined sample_70.variant31 12 rs2072356
dbSNP Clinvar
4737459 2094.25 C T PASS 0/1 169 SYNONYMOUS_CODING LOW None 0.70727 0.70730 0.26196 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_70.variant31 12 rs2072355
dbSNP Clinvar
4737715 1685.07 C T PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.70547 0.70550 0.26203 1.00 0.00 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_70.variant31 12 rs7960207
dbSNP Clinvar
4737318 4205.54 A G PASS 1/1 158 SYNONYMOUS_CODING LOW None 0.81749 0.81750 0.12133 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_70.variant31 12 rs2072358
dbSNP Clinvar
4735737 1404.65 A G PASS 0/1 231 SYNONYMOUS_CODING LOW None 0.26418 0.26420 0.24789 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_70.variant31 12 rs1990312
dbSNP Clinvar
4736495 2380.49 C T PASS 1/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.98283 0.98280 0.02299 1.00 0.00 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_70.variant31 12 rs34392018
dbSNP Clinvar
4735770 1686.94 G A PASS 0/1 238 SYNONYMOUS_CODING LOW None 0.01657 0.01657 0.02991 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_70.variant31 12 rs11063265
dbSNP Clinvar
4736631 3680.41 A G PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.98283 0.98280 0.02314 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_70.variant31 12 rs12366671
dbSNP Clinvar
4736569 1219.14 A G PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.08826 0.08826 0.11433 0.96 0.00 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_70.variant31 12 rs11063266
dbSNP Clinvar
4736677 4520.29 G C PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.91154 0.91150 0.05090 0.32 0.00 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_70.variant31 12 rs10774251
dbSNP Clinvar
4736690 4469.05 A G PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.97264 0.97260 0.03283 None None None None None None AKAP3|0.022604217|72.88%

ALG10B

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 combined sample_70.variant31 12 rs6582584
dbSNP Clinvar
38712142 9124.73 C G PASS 1/1 335 NON_SYNONYMOUS_CODING MODERATE None 0.96665 0.96670 0.03383 1.00 0.00 None None None None None None ALG10B|0.041656471|65.23%

AMDHD1

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 combined sample_70.variant31 12 rs7955450
dbSNP Clinvar
96337183 4032.83 A G PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.71845 0.71850 0.56 0.00 None None None None None None AMDHD1|0.4419198|18.57%

AMIGO2

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 combined sample_70.variant31 12 rs2269828
dbSNP Clinvar
47471439 2933.13 G A PASS 0/1 245 SYNONYMOUS_CODING LOW None 0.22165 0.22160 0.27249 None None None None None None AMIGO2|0.036937245|66.81%

ANHX

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 combined sample_70.variant31 12 rs144454089
dbSNP Clinvar
133795885 746.02 G A PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.48343 0.48340 0.03 0.01 None None None None None None ANHX|0.002701855|89.23%

ANKLE2

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 combined sample_70.variant31 12 rs1132375
dbSNP Clinvar
133331537 4796.39 G A PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.26038 0.26040 0.30305 0.04 0.18 None None None None None None ANKLE2|0.0109485|80.11%
View combined sample_70.variant31 12 rs10781634
dbSNP Clinvar
133306589 4033.5 C T PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.24720 0.24720 0.31189 0.16 0.00 None None None None None None ANKLE2|0.0109485|80.11%

ANKRD33

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 combined sample_70.variant31 12 rs697634
dbSNP Clinvar
52282060 791.27 C T PASS 1/1 168 SYNONYMOUS_CODING LOW None 0.33167 0.33170 0.25811 None None None None None None ANKRD33|0.021337609|73.52%
View combined sample_70.variant31 12 rs697636
dbSNP Clinvar
52282873 813.96 A T PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.32388 0.32390 0.26403 0.05 0.96 None None None None None None ANKRD33|0.021337609|73.52%
View combined sample_70.variant31 12 rs7303030
dbSNP Clinvar
52284483 5006.52 A G PASS 0/1 402 SYNONYMOUS_CODING LOW None 0.10503 0.10500 0.17246 None None None None None None ANKRD33|0.021337609|73.52%
View combined sample_70.variant31 12 rs34494292
dbSNP Clinvar
52284500 3772.6 A G PASS 0/1 401 NON_SYNONYMOUS_CODING MODERATE None 0.14896 0.14900 0.15601 0.15 0.05 None None None None None None ANKRD33|0.021337609|73.52%
View combined sample_70.variant31 12 rs12368048
dbSNP Clinvar
52284668 3069.27 C A PASS 0/1 333 NON_SYNONYMOUS_CODING MODERATE None 0.16514 0.16510 0.18353 0.00 0.93 None None None None None None ANKRD33|0.021337609|73.52%
View combined sample_70.variant31 12 rs3180417
dbSNP Clinvar
52285086 336.84 G A PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.14697 0.14700 0.15570 None None None None None None ANKRD33|0.021337609|73.52%

ANKRD52

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs808919
dbSNP Clinvar
56647911 1090.74 G C PASS 1/1 127 SYNONYMOUS_CODING LOW None 0.80471 0.80470 0.20446 None None None None None None ANKRD52|0.243975122|32.09%
View combined sample_70.variant31 12 rs1274490
dbSNP Clinvar
56649601 536.43 A G PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.80631 0.80630 0.20515 None None None None None None ANKRD52|0.243975122|32.09%

ANKS1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs1552759
dbSNP Clinvar
99640557 1402.02 T C PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.63219 0.63220 0.43523 None None None None None None ANKS1B|0.915391472|3.1%
View combined sample_70.variant31 12 rs3751323
dbSNP Clinvar
99640428 1781.91 T C PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.54832 0.54830 0.39685 None None None None None None ANKS1B|0.915391472|3.1%

ANO2

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 combined sample_70.variant31 12 rs1860961
dbSNP Clinvar
5841733 2036.97 A C PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE None 0.13698 0.13700 0.12448 0.30 0.00 None None None None None None ANO2|0.232649133|33.14%
View combined sample_70.variant31 12 rs2277398
dbSNP Clinvar
5674754 2083.99 G A PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.34225 0.34230 0.39520 None None None None None None ANO2|0.232649133|33.14%
View combined sample_70.variant31 12 rs78897473
dbSNP Clinvar
5841728 1646.44 A C PASS 0/1 162 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00016 None None None None None None ANO2|0.232649133|33.14%

ANO4

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 combined sample_70.variant31 12 rs1055734
dbSNP Clinvar
101520689 1135.5 A G PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.14717 0.14720 0.13732 None None None None None None ANO4|0.60629619|11.58%
View combined sample_70.variant31 12 rs73145643
dbSNP Clinvar
101133748 1145.6 A C PASS 0/1 194 None None None 0.10963 0.10960 0.17 0.01 None None None None None None ANO4|0.60629619|11.58%

APOBEC1

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 combined sample_70.variant31 12 rs2302515
dbSNP Clinvar
7805236 2672.19 C G PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.65915 0.65910 0.22128 0.46 0.00 None None None None None None APOBEC1|0.005430298|85.3%

APOLD1

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 combined sample_70.variant31 12 rs4763876
dbSNP Clinvar
12939892 971.51 G A PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.05791 0.05791 0.03928 0.14 0.99 None None None None None None APOLD1|0.097088778|51.7%
View combined sample_70.variant31 12 rs7956514
dbSNP Clinvar
12879254 1294.35 T G PASS 0/1 111 None None None 0.23343 0.23340 0.00 None None None None None None APOLD1|0.097088778|51.7%

AQP2

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 combined sample_70.variant31 12 rs426496
dbSNP Clinvar
50348078 1286.11 T C PASS 0/1 128 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

ARF3

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 combined sample_70.variant31 12 rs12122
dbSNP Clinvar
49334762 2794.76 G C PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.92312 0.92310 0.09227 None None None None None None ARF3|0.720861562|7.96%

ARHGAP9

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 combined sample_70.variant31 12 rs2277315
dbSNP Clinvar
57869582 959.07 T C PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.59066 0.59070 0.28836 0.47 0.00 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%
View combined sample_70.variant31 12 rs3825080
dbSNP Clinvar
57871555 1604.5 A G PASS 1/1 60 None None None 0.61082 0.61080 0.02 0.00 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%
View combined sample_70.variant31 12 rs11544238
dbSNP Clinvar
57870155 1686.28 A C PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.37021 0.37020 0.48939 0.20 0.00 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%

ARHGDIB

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 combined sample_70.variant31 12 rs2430711
dbSNP Clinvar
15103605 2301.07 A G PASS 1/1 64 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00008 None None None None None None ARHGDIB|0.131635037|45.66%

ARHGEF25

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 combined sample_70.variant31 12 rs1564374
dbSNP Clinvar
58010163 2617.2 A G PASS 0/1 175 NON_SYNONYMOUS_CODING MODERATE None 0.63019 0.63020 0.44610 1.00 0.00 None None None None None None ARHGEF25|0.10608037|49.98%

ARNTL2

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 combined sample_70.variant31 12 rs1037921
dbSNP Clinvar
27553566 2384.26 A G PASS 0/1 271 NON_SYNONYMOUS_CODING MODERATE None 0.03275 0.03275 0.04006 1.00 0.00 None None None None None None ARNTL2|0.014499354|77.48%

ART4

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 combined sample_70.variant31 12 rs3088189
dbSNP Clinvar
14993608 1274.29 G A PASS 1/1 105 SYNONYMOUS_CODING LOW None 0.29273 0.29270 0.35591 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%
View combined sample_70.variant31 12 rs1861698
dbSNP Clinvar
14993854 1819.51 A G PASS 1/1 149 SYNONYMOUS_CODING LOW None 0.25619 0.25620 0.34284 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%
View combined sample_70.variant31 12 rs11276
dbSNP Clinvar
14993439 2122.47 C T PASS 1/1 178 NON_SYNONYMOUS_CODING MODERATE None 0.29273 0.29270 0.35599 1.00 0.00 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%

ASCL1

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 combined sample_70.variant31 12 rs794726916
dbSNP Clinvar
103352171 3275.08 CG... CG... PASS 0/2 59 CODON_INSERTION MODERATE None None None None None None None PAH|0.397123463|20.97%,ASCL1|0.898371145|3.46%

ASCL4

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 combined sample_70.variant31 12 rs201513808
dbSNP Clinvar
108169501 1633.07 AG A PASS 0/1 132 FRAME_SHIFT HIGH None 0.01018 0.01018 0.00721 None None None None None None ASCL4|0.01131851|79.76%

ASIC1

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 combined sample_70.variant31 12 rs653576
dbSNP Clinvar
50452708 8106.53 C G PASS 1/1 275 SYNONYMOUS_CODING LOW None 0.92752 0.92750 0.03721 None None None None None None ASIC1|0.372226278|22.59%
View combined sample_70.variant31 12 rs706792
dbSNP Clinvar
50467644 778.96 G T PASS 0/1 118 None None None 0.22844 0.22840 0.12 0.41 None None None None None None ASIC1|0.372226278|22.59%
View combined sample_70.variant31 12 rs706793
dbSNP Clinvar
50467769 1927.97 G A PASS 0/1 233 None None None 0.22804 0.22800 None None None None None None ASIC1|0.372226278|22.59%

ASUN

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 combined sample_70.variant31 12 rs3210635
dbSNP Clinvar
27064232 807.85 C T PASS 1/1 95 SYNONYMOUS_CODING LOW None 0.57927 0.57930 0.48731 None None None None None None ASUN|0.615904164|11.26%

ATF1

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 combined sample_70.variant31 12 rs1129406
dbSNP Clinvar
51203371 1867.15 C T PASS 0/1 125 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39337 0.39340 0.44687 None None None None None None ATF1|0.419687385|19.6%

ATF7IP

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 combined sample_70.variant31 12 rs3213764
dbSNP Clinvar
14587301 836.69 A G PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.42242 0.01 0.49 None None None None None None ATF7IP|0.114905203|48.34%
View combined sample_70.variant31 12 rs61754405
dbSNP Clinvar
14578220 2193.53 C T PASS 0/1 155 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00346 None None None None None None ATF7IP|0.114905203|48.34%

ATN1

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 combined sample_70.variant31 12 . 7045891 3369.13 AC... AC... PASS 0/1 174 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View combined sample_70.variant31 12 rs181318837
dbSNP Clinvar
7046591 1333.59 C T PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.00599 0.00599 0.00341 None None None None None None ATN1|0.702926343|8.41%

ATP2B1

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 combined sample_70.variant31 12 rs1050395
dbSNP Clinvar
90028901 2526.43 T C PASS 0/1 203 SYNONYMOUS_CODING LOW None 0.12081 0.12080 0.18368 None None None None None None ATP2B1|0.788695463|6.13%
View combined sample_70.variant31 12 rs17191974
dbSNP Clinvar
90049367 392.84 C T PASS 0/1 24 None None None 0.08167 0.08167 None None None None None None ATP2B1|0.788695463|6.13%

ATP5G2

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 combined sample_70.variant31 12 rs2857000
dbSNP Clinvar
54067544 341.28 A G PASS 1/1 10 None None None 0.99541 0.99540 None None None None None None ATP5G2|0.247262902|31.81%

ATP6V0A2

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 combined sample_70.variant31 12 rs75279884
dbSNP Clinvar
124242557 1467.31 A G PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.00459 0.00459 0.01292 0.59 0.00 None None None None None None ATP6V0A2|0.124260234|46.77%
View combined sample_70.variant31 12 rs1139789
dbSNP Clinvar
124209332 1781.31 T C PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.75100 0.75100 0.35338 None None None None None None ATP6V0A2|0.124260234|46.77%
View combined sample_70.variant31 12 rs1399961
dbSNP Clinvar
124210782 1223.83 T C PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.74980 0.74980 0.36014 None None None None None None ATP6V0A2|0.124260234|46.77%
View combined sample_70.variant31 12 rs7135542
dbSNP Clinvar
124229429 2448.64 T C PASS 0/1 259 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.79952 0.79950 0.30463 None None None None None None ATP6V0A2|0.124260234|46.77%

ATXN2

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 combined sample_70.variant31 12 rs10560189,rs67658094
dbSNP Clinvar
112036753 425.02 GGCT G PASS 0/1 56 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.95108 0.95110 0.09190 None None None None None None ATXN2|0.872313714|4.16%
View combined sample_70.variant31 12 rs695872
dbSNP Clinvar
112036929 336.08 G A PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.44429 0.44430 None None None None None None ATXN2|0.872313714|4.16%
View combined sample_70.variant31 12 rs695871
dbSNP Clinvar
112037000 774.73 G C PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.44429 0.44430 0.00 None None None None None None ATXN2|0.872313714|4.16%
View combined sample_70.variant31 12 rs4098854
dbSNP Clinvar
112036797 220.19 C T PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.65675 0.65670 None None None None None None ATXN2|0.872313714|4.16%