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Genes:
A2M, A2ML1, AAAS, AACS, ABCC9, AC068987.1, ACACB, ACADS, ACRBP, ACSM4, ADAMTS20, ADCY6, AGAP2, AICDA, AKAP3, ALDH1L2, ALG10B, AMDHD1, AMIGO2, ANAPC7, ANHX, ANKLE2, ANKRD33, ANKRD52, ANKS1B, ANO2, APOBEC1, APOLD1, APPL2, AQP2, ARF3, ARHGAP9, ARHGDIB, ARHGEF25, ART4, ASCL1, ASIC1, ASUN, ATF7IP, ATN1, ATP5G2, ATP6V0A2, ATXN2, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT1, B4GALNT3, BCL2L14, BCL7A, BEST3, BICD1, BIN2, BTBD11, C12orf10, C12orf29, C12orf36, C12orf40, C12orf42, C12orf43, C12orf45, C12orf50, C12orf54, C12orf55, C12orf56, C12orf66, C12orf68, C12orf71, C12orf77, C1RL, C2CD5, CACNA1C, CACNA2D4, CACNB3, CAMKK2, CAND1, CAPRIN2, CAPS2, CASC1, CCDC38, CCDC41, CCDC53, CCDC60, CCDC77, CCDC91, CCND2, CCNT1, CD163, CD163L1, CD27, CD4, CDK2, CDKN1B, CEP290, CERS5, CHD4, CHFR, CHPT1, CIT, CKAP4, CLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2D, CLEC4A, CLEC4C, CLEC9A, CLECL1, CLIP1, CLLU1, CLSTN3, CMKLR1, CNTN1, COL2A1, COPS7A, COQ5, CPM, CPNE8, CPSF6, CRY1, CSRP2, CTD-2140B24.4, CUX2, DAZAP2, DBX2, DCD, DCP1B, DDX11, DDX23, DDX47, DDX51, DENND5B, DGKA, DHX37, DIABLO, DIP2B, DNAH10, DPPA3, DPY19L2, DUSP6, DYNLL1, DYRK4, E2F7, EEA1, EFCAB4B, EID3, EIF2S3L, EIF4B, EMG1, EP400, ERBB3, ERC1, ERP27, ESPL1, ETV6, FAM186A, FAM186B, FAM90A1, FBRSL1, FBXW8, FGD4, FGD6, FGF6, FOXM1, FOXN4, FRS2, GALNT8, GALNT9, GAPDH, GAS2L3, GATC, GCN1L1, GDF3, GLI1, GLIPR1, GNB3, GNPTAB, GNS, GOLGA3, GPD1, GPR133, GPR162, GPR19, GPRC5A, GPRC5D, GRIN2B, GRIP1, GUCY2C, GXYLT1, GYS2, H1FNT, HAL, HCAR3, HDAC7, HELB, HIP1R, HNF1A, HOXC11, HOXC4, HOXC9, HPD, IAPP, IFLTD1, IKBIP, ING4, IPO8, IQSEC3, IRAK3, ISCU, ITGA5, ITGA7, ITPR2, KANSL2, KCNA1, KCNA5, KDM2B, KDM5A, KERA, KIAA1033, KIAA1467, KIAA1551, KIF21A, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KNTC1, KRAS, KRR1, KRT1, KRT2, KRT3, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT73, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT83, KRT84, KRT86, KSR2, LACRT, LAG3, LALBA, LDHB, LEPREL2, LGR5, LMBR1L, LPCAT3, LRMP, LRP1, LRP6, LRRC23, LRRC43, LRRK2, LTBR, MAGOHB, MANSC1, MANSC4, MARCH9, MDM1, MED21, METTL25, MFSD5, MLXIP, MMAB, MMP17, MMP19, MON2, MUC19, MUCL1, MVK, MYBPC1, MYO1A, MYO1H, MYRFL, NACA, NANOG, NANOGNB, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCOR2, NOS1, NR4A1, NT5DC3, NTF3, NTN4, NUAK1, NXPH4, OAS1, OAS2, OAS3, OASL, OR10AD1, OR10P1, OR6C1, OR6C2, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C74, OR6C75, OR6C76, OR8S1, OR9K2, ORAI1, OS9, OTOGL, OVCH1, P2RX2, P2RX4, P2RX7, PAH, PAN2, PARPBP, PAWR, PDE1B, PDE3A, PDZRN4, PEX5, PFKM, PGAM5, PHB2, PHC1, PHLDA1, PIK3C2G, PIP4K2C, PITPNM2, PIWIL1, PKP2, PLBD1, PLBD2, PLEKHG6, PLEKHG7, PLXNC1, PMEL, POLE, POLR3B, POP5, PPFIA2, PPFIBP1, PPHLN1, PPP1R1A, PPTC7, PRB1, PRB2, PRB3, PRB4, PRH2, PRIM1, PRR4, PSMD9, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PXMP2, PXN, PZP, R3HDM2, RAB21, RAPGEF3, RASAL1, RBM19, RDH5, RECQL, REP15, RERG, RFX4, RILPL1, RIMBP2, RIMKLB, RNFT2, RP11-1105G2.3, RP11-144F15.1, RP11-762I7.5, RPH3A, SART3, SBNO1, SCAF11, SCARB1, SCN8A, SCNN1A, SENP1, SETD1B, SFSWAP, SH2B3, SIRT4, SLC11A2, SLC15A4, SLC15A5, SLC26A10, SLC2A14, SLC38A2, SLC38A4, SLC41A2, SLC5A8, SLC6A12, SLC6A13, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SP7, SPRYD4, SRGAP1, ST8SIA1, STAB2, STK38L, STX2, STYK1, SUDS3, SUOX, SYT1, TAOK3, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R8, TAS2R9, TBC1D15, TBC1D30, TBK1, TCP11L2, TENC1, TESPA1, TIMELESS, TMCC3, TMED2, TMEM106C, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM233, TMPO, TMPRSS12, TMTC1, TMTC3, TNFRSF1A, TPH2, TRPV4, TSPAN11, TXNRD1, UBC, UBE3B, ULK1, USP15, USP30, USP44, USP5, UTP20, VDR, VEZT, VPS33A, VSIG10, VWF, WDR66, WIBG, WIF1, WNK1, WSB2, WSCD2, XRCC6BP1, YAF2, YARS2, ZCCHC8, ZFC3H1, ZNF140, ZNF268, ZNF641, ZNF664, ZNF891,

Genes at Omim

A2M, A2ML1, AAAS, ABCC9, ACADS, ADCY6, AICDA, ALG10B, ANKLE2, AQP2, ART4, ASCL1, ATN1, ATP6V0A2, ATXN2, B4GALNT1, BCL7A, CACNA1C, CACNA2D4, CCND2, CD27, CD4, CDKN1B, CEP290, CHD4, CIT, CLEC1A, CNTN1, COL2A1, CRY1, CUX2, DDX11, DIP2B, DPY19L2, DUSP6, EMG1, ERBB3, ETV6, FGD4, GDF3, GLI1, GNB3, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, IRAK3, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIF21A, KRAS, KRT1, KRT2, KRT3, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MMAB, MMP19, MVK, MYBPC1, NCAPD2, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PEX5, PFKM, PHC1, PKP2, POLE, POLR3B, PTPRO, PTPRQ, RDH5, SCARB1, SCN8A, SCNN1A, SH2B3, SLC11A2, SLCO1B1, SLCO1B3, SP7, SRGAP1, SUOX, SYT1, TBK1, TMTC3, TNFRSF1A, TPH2, TRPV4, UBE3B, VDR, VPS33A, 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)
B4GALNT1 Spastic paraplegia 26, autosomal recessive, 609195 (3)
BCL7A B-cell non-Hodgkin lymphoma, high-grade (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)
CDKN1B Multiple endocrine neoplasia, type IV, 610755 (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)
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)
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)
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)
GDF3 Klippel-Feil syndrome 3, autosomal dominant, 613702 (3)
Microphthalmia, isolated 7, 613704 (3)
Microphthalmia with coloboma 6, 613703 (3)
GLI1 Polydactyly, postaxial, type A8, 618123 (3)
GNB3 {Hypertension, essential, susceptibility to}, 145500 (3)
Night blindness, congenital stationary, type 1H, 617024 (3)
GNPTAB Mucolipidosis II alpha/beta, 252500 (3)
Mucolipidosis III alpha/beta, 252600 (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)
KIF21A Fibrosis of extraocular muscles, congenital, 1, 135700 (3)
Fibrosis of extraocular muscles, congenital, 3B, 135700 (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)
KRT5 Dowling-Degos disease 1, 179850 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Epidermolysis bullosa simplex-MCR, 609352 (3)
Epidermolysis bullosa simplex-MP, 131960 (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)
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)
NCAPD2 ?Microcephaly 21, primary, autosomal recessive, 617983 (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)
PEX5 Peroxisome biogenesis disorder 2A (Zellweger), 214110 (3)
Peroxisome biogenesis disorder 2B, 202370 (3)
Rhizomelic chondrodysplasia punctata, type 5, 616716 (3)
PFKM Glycogen storage disease VII, 232800 (3)
PHC1 ?Microcephaly 11, primary, autosomal recessive, 615414 (3)
PKP2 Arrhythmogenic right ventricular dysplasia 9, 609040 (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)
PTPRO Nephrotic syndrome, type 6, 614196 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
RDH5 Fundus albipunctatus, 136880 (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)
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)
VDR ?Osteoporosis, involutional, 166710 (1)
Rickets, vitamin D-resistant, type IIA, 277440 (3)
VPS33A Mucopolysaccharidosis-plus syndrome, 617303 (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, CACNA1C, CACNA2D4, CCND2, CD27, CD4, CDKN1B, CEP290, CHD4, CNTN1, COL2A1, DDX11, DIABLO, DIP2B, DPY19L2, DUSP6, EMG1, ERBB3, ETV6, FGD4, GDF3, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIAA1033, KIF21A, KRAS, KRT1, KRT2, KRT3, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MMAB, MMP19, MVK, MYBPC1, MYO1A, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PEX5, PFKM, PHC1, PKP2, POLE, POLR3B, PTPRO, PTPRQ, RDH5, SART3, SCN8A, SCNN1A, SLC11A2, SLCO1B1, SLCO1B3, SP7, SUOX, TBK1, TMPO, TNFRSF1A, TRPV4, UBE3B, 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
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
CDKN1B Multiple endocrine neoplasia, type IV
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CHD4 Schizophrenia
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
DDX11 Warsaw breakage syndrome
DIABLO Deafness, autosomal dominant 64
DIP2B Mental retardation, FRA12A type
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
GDF3 Microphthalmia, isolated 7
Microphthalmia, isolated, with coloboma 6
Klippel-Feil syndrome 3, autosomal dominant
Coloboma, ocular
GNPTAB Mucolipidosis III alpha/beta (Pseudo-Hurler polydstrophy)
Mucolipidosis II alpha/beta (I-cell disease)
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
KIF21A Fibrosis of extraocular muscles, congenital 1
Fibrosis of extraocular muscles, congenital 3B
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
KRT5 Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with mottled pigmentation
Dowling-Degos disease 1
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
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
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
MYO1A Deafness, autosomal dominant 48
ORAI1 Immunodeficiency 9
OTOGL Deafness, autosomal recessive 84B
P2RX2 Deafness, autosomal dominant 41
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
PDE3A Hypertension with brachydactyly
PEX5 Peroxisome biogenesis disorder, 5
Zellweger syndrome
Adrenoleukodystrophy, neonatal
Rhizomelic chondrodysplasia punctata, type 5
PFKM Glycogen storage disease VII
PHC1 Primary microcephaly 11
PKP2 Arrhythmogenic right ventricular dysplasia, familial 9
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
PTPRO Nephrotic syndrome, type 6
PTPRQ Deafness, autosomal recessive 84
RDH5 Fundus albipunctatus
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
TMPO Cardiomyopathy, dilated, 1T
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)
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: 4457
Number of Genes: 509

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs226405
dbSNP Clinvar
9248233 2316.11 T C PASS 1/1 243 NON_SYNONYMOUS_CODING MODERATE None 0.99780 0.99780 0.00235 0.91 0.00 -2.17 None None None None None None A2M|0.10920489|49.36%

A2ML1

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1476910
dbSNP Clinvar
9020912 291.075 A G PASS 0/1 176 SYNONYMOUS_CODING LOW None 0.67772 0.67770 0.25352 None None None None None None A2ML1|0.011663794|79.48%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1860927
dbSNP Clinvar
9004512 931.827 G A PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.86821 0.86820 0.19218 None None None None None None A2ML1|0.011663794|79.48%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1860926
dbSNP Clinvar
9004892 940.791 C A PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.96605 0.96610 0.03530 1.00 0.00 0.69 None None None None None None A2ML1|0.011663794|79.48%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs10219561
dbSNP Clinvar
9016573 183.136 A G PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.96785 0.96790 0.03189 0.54 0.00 0.39 None None None None None None A2ML1|0.011663794|79.48%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1860967
dbSNP Clinvar
9013755 732.842 C T PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.43231 0.43230 0.30165 0.02 0.60 4.74 None None None None None None A2ML1|0.011663794|79.48%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs7308811
dbSNP Clinvar
9020489 1400.23 A G PASS 1/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.85264 0.85260 0.22254 0.57 0.00 -1.59 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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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1546808
dbSNP Clinvar
53703021 1165.37 G A PASS 1/1 127 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
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs7303092
dbSNP Clinvar
125562809 643.115 G A PASS 1/1 67 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
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs10770865
dbSNP Clinvar
22063115 3844.53 A G PASS 1/1 513 SYNONYMOUS_CODING LOW None 0.99720 0.99720 0.00354 None None None None None None ABCC9|0.261420458|30.64%

AC068987.1

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs172559
dbSNP Clinvar
52204246 928.413 T C PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.83846 0.83850 None None None None None None SCN8A|0.812099433|5.53%

ACACB

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2878960
dbSNP Clinvar
109577735 1190.43 C T PASS 1/1 127 SYNONYMOUS_CODING LOW None 0.39776 0.39780 0.45448 None None None None None None ACACB|0.108212697|49.54%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs7135947
dbSNP Clinvar
109629457 255.016 C T PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.38139 0.38140 0.44503 None None None None None None ACACB|0.108212697|49.54%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2241220
dbSNP Clinvar
109675029 3780.2 T C PASS 1/1 462 SYNONYMOUS_CODING LOW None 0.77915 0.77920 0.19699 None None None None None None ACACB|0.108212697|49.54%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs11065772
dbSNP Clinvar
109617865 568.379 T C PASS 1/1 60 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs3742023
dbSNP Clinvar
109693982 549.711 C T PASS 0/1 282 SYNONYMOUS_CODING LOW None 0.25519 0.25520 0.28933 None None None None None None ACACB|0.108212697|49.54%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2075260
dbSNP Clinvar
109696838 2488.39 G A PASS 1/1 267 NON_SYNONYMOUS_CODING MODERATE None 0.73882 0.73880 0.21898 1.00 0.00 2.07 None None None None None None ACACB|0.108212697|49.54%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs3915
dbSNP Clinvar
121176679 1346.01 C T PASS 1/1 141 SYNONYMOUS_CODING LOW None 0.67312 0.67310 0.40804 None None None None None None ACADS|0.070436549|57.39%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1799958
dbSNP Clinvar
121176083 382.161 G A PASS 0/1 185 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.18231 0.18230 0.19683 0.01 0.44 4.47 None None None None None None ACADS|0.070436549|57.39%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs3914
dbSNP Clinvar
121174899 204.401 T C PASS 0/1 152 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs555404
dbSNP Clinvar
121175984 182.531 T C PASS 0/1 115 None None None 0.59385 0.59380 0.03 0.00 -0.05 None None None None None None ACADS|0.070436549|57.39%

ACRBP

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs149312090
dbSNP Clinvar
6747454 393.704 G T PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00138 0.91 0.00 0.60 0.00 0.08943 T None None None None ACRBP|0.01889858|74.7%

ACSM4

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs7968241
dbSNP Clinvar
7463241 154.844 A T PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.32308 0.32310 0.43174 None None None None None None ACSM4|0.022577905|72.89%

ADAMTS20

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs11182088
dbSNP Clinvar
43860526 126.19 A G PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.43171 0.43170 0.31244 None None None None None None ADAMTS20|0.033294654|68.04%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs10880473
dbSNP Clinvar
43769276 245.157 T C PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.22384 0.22380 0.26257 None None None None None None ADAMTS20|0.033294654|68.04%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs10506226
dbSNP Clinvar
43769228 305.013 A C PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.22244 0.22240 0.26150 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2453486
dbSNP Clinvar
49177113 1052.93 T G PASS 1/1 109 SYNONYMOUS_CODING LOW None 0.29213 0.29210 0.26965 None None None None None None ADCY6|0.441849668|18.58%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs17852479
dbSNP Clinvar
58126234 316.223 C A PASS 0/1 150 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2028373
dbSNP Clinvar
8757481 986.591 G A PASS 1/1 106 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs11063265
dbSNP Clinvar
4736631 1532.46 A G PASS 1/1 160 SYNONYMOUS_CODING LOW None 0.98283 0.98280 0.02314 None None None None None None AKAP3|0.022604217|72.88%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs7960207
dbSNP Clinvar
4737318 1447.22 A G PASS 1/1 149 SYNONYMOUS_CODING LOW None 0.81749 0.81750 0.12133 None None None None None None AKAP3|0.022604217|72.88%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs7972737
dbSNP Clinvar
4737042 255.21 G A PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.28455 0.28450 0.37567 None None None None None None AKAP3|0.022604217|72.88%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1990312
dbSNP Clinvar
4736495 423.682 C T PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.98283 0.98280 0.02299 1.00 0.00 1.62 None None None None None None AKAP3|0.022604217|72.88%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 . 4735968 84.3883 AGA CAG PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.27 None None None None None None AKAP3|0.022604217|72.88%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs11063266
dbSNP Clinvar
4736677 1909.74 G C PASS 1/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.91154 0.91150 0.05090 0.32 0.00 -3.03 None None None None None None AKAP3|0.022604217|72.88%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs10774251
dbSNP Clinvar
4736690 2020.96 A G PASS 1/1 214 SYNONYMOUS_CODING LOW None 0.97264 0.97260 0.03283 None None None None None None AKAP3|0.022604217|72.88%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2072355
dbSNP Clinvar
4737715 384.301 C T PASS 0/1 190 NON_SYNONYMOUS_CODING MODERATE None 0.70547 0.70550 0.26203 1.00 0.00 -1.74 None None None None None None AKAP3|0.022604217|72.88%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2072356
dbSNP Clinvar
4737459 305.184 C T PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.70727 0.70730 0.26196 None None None None None None AKAP3|0.022604217|72.88%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs12366671
dbSNP Clinvar
4736569 280.71 A G PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.08826 0.08826 0.11433 0.96 0.00 -1.87 None None None None None None AKAP3|0.022604217|72.88%

ALDH1L2

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs11112330
dbSNP Clinvar
105434467 261.295 C T PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.30491 0.30490 0.31040 None None None None None None C12orf45|0.009401339|81.38%,ALDH1L2|0.155583388|42.19%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs4964317
dbSNP Clinvar
105433523 643.506 T A PASS 0/1 308 SYNONYMOUS_CODING LOW None 0.31050 0.31050 0.31808 None None None None None None C12orf45|0.009401339|81.38%,ALDH1L2|0.155583388|42.19%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs35518352
dbSNP Clinvar
38715000 335.037 A G PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.25140 0.25140 0.35336 None None None None None None ALG10B|0.041656471|65.23%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs6582584
dbSNP Clinvar
38712142 3653.91 C G PASS 1/1 384 NON_SYNONYMOUS_CODING MODERATE None 0.96665 0.96670 0.03383 1.00 0.00 1.17 None None None None None None ALG10B|0.041656471|65.23%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs61730283
dbSNP Clinvar
38714929 628.128 A G PASS 0/1 322 NON_SYNONYMOUS_CODING MODERATE None 0.01498 0.01498 0.01400 1.00 0.00 -4.30 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1982138
dbSNP Clinvar
96346594 272.099 T C PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.25459 0.25460 0.20231 None None None None None None AMDHD1|0.4419198|18.57%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs7955450
dbSNP Clinvar
96337183 39.79 A G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.71845 0.71850 0.56 0.00 -1.56 None None None None None None AMDHD1|0.4419198|18.57%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1436121
dbSNP Clinvar
96337225 87.8962 C T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.25479 0.25480 0.14615 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2269828
dbSNP Clinvar
47471439 281.161 G A PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.22165 0.22160 0.27249 None None None None None None AMIGO2|0.036937245|66.81%

ANAPC7

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs141147170
dbSNP Clinvar
110841437 242.062 C T PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.01098 0.01098 0.02461 0.28 0.00 0.66 None None None None None None ANAPC7|0.417994348|19.68%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs147259575
dbSNP Clinvar
133808129 311.88 C T PASS 0/1 156 SYNONYMOUS_CODING LOW None 0.12820 0.12820 None None None None None None ANHX|0.002701855|89.23%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs141475940
dbSNP Clinvar
133810703 44.9809 G C PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.12999 0.13000 None None None None None None ANHX|0.002701855|89.23%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs36146434
dbSNP Clinvar
133803551 97.0641 G C PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.12919 0.12920 0.17 0.54 2.69 None None None None None None ANHX|0.002701855|89.23%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs144454089
dbSNP Clinvar
133795885 44.889 G A PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.48343 0.48340 0.03 0.02 3.77 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs7968520
dbSNP Clinvar
133331459 315.66 G C PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.10264 0.10260 0.11191 0.37 0.13 -0.25 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs697634
dbSNP Clinvar
52282060 381.451 C T PASS 0/1 241 SYNONYMOUS_CODING LOW None 0.33167 0.33170 0.25811 None None None None None None ANKRD33|0.021337609|73.52%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs697636
dbSNP Clinvar
52282873 274.357 A T PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.32388 0.32390 0.26403 0.05 0.83 2.62 None None None None None None ANKRD33|0.021337609|73.52%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs7303030
dbSNP Clinvar
52284483 323.988 A G PASS 0/1 184 SYNONYMOUS_CODING LOW None 0.10503 0.10500 0.17246 None None None None None None ANKRD33|0.021337609|73.52%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs12368048
dbSNP Clinvar
52284668 440.48 C A PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.16514 0.16510 0.18353 0.00 0.95 6.36 None None None None None None ANKRD33|0.021337609|73.52%

ANKRD52

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs808919
dbSNP Clinvar
56647911 940.791 G C PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.80471 0.80470 0.20446 None None None None None None ANKRD52|0.243975122|32.09%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1274490
dbSNP Clinvar
56649601 107.815 A G PASS 1/1 12 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
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1552759
dbSNP Clinvar
99640557 1247.98 T C PASS 1/1 131 SYNONYMOUS_CODING LOW None 0.63219 0.63220 0.43523 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2277398
dbSNP Clinvar
5674754 667.145 G A PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.34225 0.34230 0.39520 None None None None None None ANO2|0.232649133|33.14%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2302515
dbSNP Clinvar
7805236 352.341 C G PASS 0/1 153 NON_SYNONYMOUS_CODING MODERATE None 0.65915 0.65910 0.22128 0.46 0.00 -0.25 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs7956514
dbSNP Clinvar
12879254 277.708 T G PASS 0/1 96 None None None 0.23343 0.23340 0.00 None None None None None None APOLD1|0.097088778|51.7%

APPL2

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2272495
dbSNP Clinvar
105583877 348.765 G A PASS 0/1 133 NON_SYNONYMOUS_CODING MODERATE None 0.18730 0.18730 0.22 0.05 1.15 None None None None None None APPL2|0.118101014|47.72%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs935241
dbSNP Clinvar
105568122 906.889 G A PASS 1/1 95 SYNONYMOUS_CODING LOW None 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs935240
dbSNP Clinvar
105568176 1505.96 G A PASS 1/1 156 SYNONYMOUS_CODING LOW None 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2293643
dbSNP Clinvar
105600935 171.954 G A PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.18351 0.18350 0.16023 None None None None None None APPL2|0.118101014|47.72%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs426496
dbSNP Clinvar
50348078 346.493 T C PASS 0/1 152 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs12122
dbSNP Clinvar
49334762 519.301 G C PASS 1/1 55 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs34160414
dbSNP Clinvar
57871437 148.566 C T PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.09704 0.09704 0.09951 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs11544238
dbSNP Clinvar
57870155 287.205 A C PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.37021 0.37020 0.48939 0.20 0.00 0.06 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2277315
dbSNP Clinvar
57869582 78.1981 T C PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.59066 0.59070 0.28836 0.47 0.00 0.43 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs3825080
dbSNP Clinvar
57871555 166.108 A G PASS 0/1 70 None None None 0.61082 0.61080 0.02 0.00 0.08 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs4703
dbSNP Clinvar
15095558 163.554 C G PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.48183 0.48180 0.49439 None None None None None None ARHGDIB|0.131635037|45.66%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2430711
dbSNP Clinvar
15103605 897.121 A G PASS 1/1 97 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2277323
dbSNP Clinvar
58009372 211.821 G A PASS 0/1 156 SYNONYMOUS_CODING LOW None 0.16853 0.16850 0.18722 None None None None None None ARHGEF25|0.10608037|49.98%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs60586224
dbSNP Clinvar
58005682 77.0116 G A PASS 0/1 34 None None None 0.20367 0.20370 0.24144 0.01 0.89 2.20 None None None None None None ARHGEF25|0.10608037|49.98%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1564374
dbSNP Clinvar
58010163 157.415 A G PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.63019 0.63020 0.44610 1.00 0.00 -1.37 None None None None None None ARHGEF25|0.10608037|49.98%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs3088190
dbSNP Clinvar
14982352 242.682 G C PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.12141 0.12140 0.10372 0.09 0.02 -2.00 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs731682
dbSNP Clinvar
103352649 720.429 C G PASS 0/1 389 SYNONYMOUS_CODING LOW None 0.07129 0.07129 0.10393 None None None None None None ASCL1|0.898371145|3.46%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs558732328
dbSNP Clinvar
103352145 28.145 A G PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.00300 0.00300 None None None None None None PAH|0.397123463|20.97%,ASCL1|0.898371145|3.46%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs706792
dbSNP Clinvar
50467644 179.179 G T PASS 0/1 80 None None None 0.22844 0.22840 0.12 0.70 2.30 None None None None None None ASIC1|0.372226278|22.59%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs706793
dbSNP Clinvar
50467769 383.662 G A PASS 0/1 224 None None None 0.22804 0.22800 None None None None None None ASIC1|0.372226278|22.59%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs653576
dbSNP Clinvar
50452708 1353.4 C G PASS 1/1 142 SYNONYMOUS_CODING LOW None 0.92752 0.92750 0.03721 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs3210635
dbSNP Clinvar
27064232 207.619 C T PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.57927 0.57930 0.48731 None None None None None None ASUN|0.615904164|11.26%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2231909
dbSNP Clinvar
14577892 209.365 A T PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.32129 0.32130 0.30778 0.12 0.00 2.65 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs7969685
dbSNP Clinvar
7047143 353.682 C A PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.16254 0.16250 0.26462 None None None None None None ATN1|0.702926343|8.41%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2857000
dbSNP Clinvar
54067544 86.7583 A G PASS 1/1 9 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs7135542
dbSNP Clinvar
124229429 3521.59 T C PASS 1/1 371 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.79952 0.79950 0.30463 None None None None None None ATP6V0A2|0.124260234|46.77%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1139789
dbSNP Clinvar
124209332 1393.49 T C PASS 1/1 146 SYNONYMOUS_CODING LOW None 0.75100 0.75100 0.35338 None None None None None None ATP6V0A2|0.124260234|46.77%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs1399961
dbSNP Clinvar
124210782 1199.3 T C PASS 1/1 131 SYNONYMOUS_CODING LOW None 0.74980 0.74980 0.36014 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs695871
dbSNP Clinvar
112037000 499.348 G C PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.44429 0.44430 0.41 0.00 0.98 None None None None None None ATXN2|0.872313714|4.16%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs695872
dbSNP Clinvar
112036929 161.591 G A PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.44429 0.44430 None None None None None None ATXN2|0.872313714|4.16%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs4098854
dbSNP Clinvar
112036797 62.2855 C T PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.65675 0.65670 None None None None None None ATXN2|0.872313714|4.16%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs757403790
dbSNP Clinvar
112036794 67.9734 C T PASS 0/1 26 SYNONYMOUS_CODING LOW None None None None None None None ATXN2|0.872313714|4.16%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs76696028
dbSNP Clinvar
112036782 112.15 T C PASS 0/1 31 SYNONYMOUS_CODING LOW None None None None None None None ATXN2|0.872313714|4.16%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs3906245
dbSNP Clinvar
112036779 191.731 C T PASS 0/1 34 SYNONYMOUS_CODING LOW None None None None None None None ATXN2|0.872313714|4.16%

ATXN7L3B

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs590352
dbSNP Clinvar
74932159 76.1586 G C PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.66933 0.66930 0.37976 None None None None None None ATXN7L3B|0.065423029|58.5%

AVIL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 12 rs2172521
dbSNP Clinvar
58204283 463.881 T C PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.32 0.00 1.29 None None None None None None AVIL|0.110773027|49.04%