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Genes:
A2M, A2ML1, AAAS, ABCC9, ACACB, ACADS, ACSM4, ACSS3, ADAMTS20, ADIPOR2, AICDA, AKAP3, ALDH1L2, ALG10B, AMDHD1, AMIGO2, ANAPC7, ANHX, ANKLE2, ANKRD13A, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO6, APOBEC1, APPL2, AQP2, ARF3, ARHGAP9, ARHGDIB, ART4, ASB8, ASIC1, ASUN, ATF1, ATF7, ATF7IP, ATN1, ATP6V0A2, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT3, BCL2L14, BEST3, BIN2, C12orf10, C12orf29, C12orf42, C12orf43, C12orf54, C12orf56, C12orf60, C12orf65, C12orf66, C12orf68, C12orf77, C1RL, C1S, C2CD5, CACNA1C, CACNA2D4, CACNB3, CALCOCO1, CAMKK2, CAND1, CAPRIN2, CAPZA3, CASC1, CCDC38, CCDC53, CCDC60, CCDC63, CCDC65, CCDC77, CCDC91, CD163, CD163L1, CD27, CD4, CDKN1B, CEP290, CERS5, CHD4, CHFR, CHPT1, CIT, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLECL1, CLIP1, CLLU1, CLSTN3, CMKLR1, CNTN1, COL2A1, COQ10A, CPM, CPNE8, CSRNP2, CUX2, DAZAP2, DBX2, DDX11, DDX23, DDX51, DDX55, DENND5B, DGKA, DHX37, DIP2B, DNAH10, DNAJC22, DNM1L, DPY19L2, DUSP6, DYRK4, E2F7, EEA1, EID3, EIF4B, EMG1, EP400, EPS8, ERC1, ERGIC2, ERP27, ESPL1, FAM186A, FAM216A, FAM71C, FAM90A1, FBXW8, FGD4, FGF6, FICD, FOXM1, FOXN4, FRS2, GALNT4, GALNT6, GALNT8, GALNT9, GAPDH, GAS2L3, GCN1L1, GIT2, GLI1, GLIPR1L1, GLIPR1L2, GLT1D1, GNB3, GNPTAB, GNS, GOLGA3, GPD1, GPR133, GPR162, GPR19, GRIN2B, GRIP1, GTF2H3, GUCY2C, GXYLT1, GYS2, H1FNT, HAL, HCAR2, HCAR3, HELB, HIP1R, HMGA2, HNF1A, HOXC11, HPD, HSP90B1, HSPB8, IFFO1, IFLTD1, IKBIP, INHBC, IPO8, IQSEC3, IRAK3, ISCU, ITGA5, ITGA7, ITGB7, ITPR2, KCNA1, KCNA5, KCTD10, KDM2B, KERA, KIAA1033, KIAA1467, KIAA1551, KIF21A, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KRAS, KRR1, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT73, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KSR2, LAG3, LDHB, LEPREL2, LETMD1, LGR5, LMBR1L, LPCAT3, LRIG3, LRMP, LRP1, LRP6, LRRC23, LRRC43, LRRIQ1, LRRK2, LTBR, LUM, MAGOHB, MANSC1, MANSC4, MDM1, MDM2, METAP2, METTL25, METTL7B, MGP, MMAB, MMP17, MMP19, MON2, MPHOSPH9, MUC19, MUCL1, MVK, MYBPC1, MYO1H, NACA, NANOG, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCKAP5L, NCOR2, NOC4L, NOS1, NT5DC3, NTF3, NTN4, NUP107, NXPH4, OAS1, OAS2, OAS3, OASL, OR10AD1, OR6C1, OR6C2, OR6C3, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C76, OR8S1, ORAI1, OS9, OTOGL, OVCH1, P2RX2, P2RX4, P2RX7, PAH, PAN2, PARPBP, PAWR, PDE3A, PDE6H, PDZRN4, PEX5, PFKM, PHC1, PHLDA1, PIK3C2G, PIP4K2C, PIWIL1, PLA2G1B, PLBD1, PLBD2, PLEKHG6, PLEKHG7, PLXNC1, PMEL, POLE, POLR3B, POP5, PPFIBP1, PPM1H, PPP1CC, PPP1R1A, PPTC7, PRH1, PRIM1, PRMT8, PRR4, PSMD9, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PUS1, PUS7L, PXN, PZP, R3HDM2, RAB21, RAD51AP1, RAD9B, RAPGEF3, RARG, RASAL1, RBM19, RBMS2, RBP5, RDH5, REP15, RFX4, RHNO1, RILPL1, RIMBP2, RIMKLB, RND1, RNFT2, RPH3A, SART3, SBNO1, SCAF11, SCARB1, SCN8A, SCNN1A, SENP1, SETD1B, SFSWAP, SHMT2, SIRT4, SLC11A2, SLC15A4, SLC15A5, SLC16A7, SLC17A8, SLC26A10, SLC2A14, SLC2A3, SLC38A4, SLC5A8, SLC6A12, SLC6A13, SLC6A15, SLC8B1, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SP1, SP7, SPRYD4, SPSB2, SRGAP1, SRRM4, SSH1, ST8SIA1, STAB2, STK38L, STX2, STYK1, SUOX, SYT1, TAOK3, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R46, TAS2R8, TAS2R9, TBC1D15, TBC1D30, TBK1, TBX3, TCHP, TCP11L2, TCTN2, TESPA1, TIMELESS, TMBIM4, TMED2, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM233, TMPRSS12, TMTC1, TMTC3, TNFRSF1A, TPH2, TPI1, TRHDE, TRPV4, TSPAN8, TULP3, TWF1, TXNRD1, UBC, UBE3B, UHRF1BP1L, ULK1, USP15, USP30, USP44, USP5, UTP20, VDR, VEZT, VSIG10, VWF, WDR66, WIBG, WIF1, WNK1, WNT10B, WSCD2, YAF2, YARS2, ZDHHC17, ZFC3H1, ZNF10, ZNF268, ZNF384, ZNF705A,

Genes at Omim

A2M, A2ML1, AAAS, ABCC9, ACADS, AICDA, ALG10B, ANKLE2, ANO6, AQP2, ART4, ATN1, ATP6V0A2, C12orf65, C1S, CACNA1C, CACNA2D4, CCDC65, CD27, CD4, CDKN1B, CEP290, CHD4, CIT, CLEC1A, CNTN1, COL2A1, CUX2, DDX11, DIP2B, DNM1L, DPY19L2, DUSP6, EMG1, EPS8, FGD4, GLI1, GNB3, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HMGA2, HNF1A, HPD, HSPB8, IRAK3, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIF21A, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT8, KRT81, LDHB, LRP1, LRP6, LRRK2, MDM2, MGP, MMAB, MMP19, MVK, MYBPC1, NCAPD2, NUP107, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PDE6H, PEX5, PFKM, PHC1, POLE, POLR3B, PTPRO, PTPRQ, PUS1, RDH5, SCARB1, SCN8A, SCNN1A, SLC11A2, SLC17A8, SLCO1B1, SLCO1B3, SP7, SRGAP1, SUOX, SYT1, TBK1, TBX3, TCTN2, TMTC3, TNFRSF1A, TPH2, TPI1, TRPV4, UBE3B, VDR, VWF, WDR66, WNK1, WNT10B, 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)
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)
ANO6 Scott syndrome, 262890 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ART4 [Blood group, Dombrock], 616060 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Wrinkly skin syndrome, 278250 (3)
C12orf65 Combined oxidative phosphorylation deficiency 7, 613559 (3)
Spastic paraplegia 55, autosomal recessive, 615035 (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)
CCDC65 Ciliary dyskinesia, primary, 27, 615504 (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)
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)
EPS8 ?Deafness, autosomal recessive 102, 615974 (3)
FGD4 Charcot-Marie-Tooth disease, type 4H, 609311 (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)
HMGA2 Leiomyoma, uterine, somatic, 150699 (1)
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)
HSPB8 Charcot-Marie-Tooth disease, axonal, type 2L, 608673 (3)
Neuropathy, distal hereditary motor, type IIA, 158590 (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)
KRT4 White sponge nevus 1, 193900 (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)
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)
MDM2 {Accelerated tumor formation, susceptibility to}, 614401 (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)
NCAPD2 ?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NUP107 Galloway-Mowat syndrome 7, 618348 (3)
Nephrotic syndrome, type 11, 616730 (3)
?Ovarian dysgenesis 6, 618078 (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)
PDE6H Achromatopsia 6, 610024 (3)
Retinal cone dystrophy 3, 610024 (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)
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)
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (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)
SLC11A2 Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)
SLC17A8 Deafness, autosomal dominant 25, 605583 (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)
TBX3 Ulnar-mammary syndrome, 181450 (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)
TPI1 Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (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)
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)
WNT10B Split-hand/foot malformation 6, 225300 (3)
Tooth agenesis, selective, 8, 617073 (3)
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)

Genes at Clinical Genomics Database

A2M, AAAS, ABCC9, ACADS, AICDA, ANKLE2, ANO6, AQP2, ART4, ATN1, ATP6V0A2, C1S, CACNA1C, CACNA2D4, CCDC65, CD27, CD4, CDKN1B, CEP290, CHD4, CNTN1, COL2A1, DDX11, DIP2B, DNM1L, DPY19L2, DUSP6, EMG1, EPS8, FGD4, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, HSPB8, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIAA1033, KIF21A, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT81, LDHB, LRP1, LRP6, LRRK2, MGP, MMAB, MMP19, MVK, MYBPC1, NUP107, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PDE6H, PEX5, PFKM, PHC1, POLE, POLR3B, PTPRO, PTPRQ, PUS1, RDH5, SART3, SCN8A, SCNN1A, SLC11A2, SLC17A8, SLCO1B1, SLCO1B3, SP7, SUOX, TBK1, TBX3, TCTN2, TNFRSF1A, TPI1, TRPV4, UBE3B, VDR, VWF, WNK1, WNT10B, 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
AICDA Immunodeficiency with hyper-IgM, type 2
ANKLE2 Microcephaly, primary autosomal recessive, 16
ANO6 Scott syndrome
AQP2 Diabetes insipidus, nephrogenic, autosomal
ART4 Blood group, Dombrock
ATN1 Dentatorubro-pallidoluysian atrophy
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
C1S Complement component C1s deficiency
CACNA1C Brugada syndrome 3
Timothy syndrome
CACNA2D4 Retinal cone dystrophy 4
CCDC65 Ciliary dyskinesia, primary, 27
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
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
EPS8 Deafness, autosomal recessive 102
FGD4 Charcot-Marie-Tooth disease, type 4H
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
HSPB8 Charcot-Marie-Tooth disease, axonal, type 2L
Distal hereditary motor neuronopathy IIA
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
KRT4 White sponge nevus 1
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
LDHB Lactate dehydrogenase B deficiency
LRP1 Schizophrenia
LRP6 Coronary artery disease, autosomal dominant 2
LRRK2 Parkinson disease 8
Dementia, Lewy body
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
NUP107 Nephrotic syndrome, type 11
ORAI1 Immunodeficiency 9
OTOGL Deafness, autosomal recessive 84B
P2RX2 Deafness, autosomal dominant 41
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
PDE3A Hypertension with brachydactyly
PDE6H Achromatopsia 6
Retinal cone dystrophy 3A
PEX5 Peroxisome biogenesis disorder, 5
Zellweger syndrome
Adrenoleukodystrophy, neonatal
Rhizomelic chondrodysplasia punctata, type 5
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
PTPRO Nephrotic syndrome, type 6
PTPRQ Deafness, autosomal recessive 84
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1
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
SLC17A8 Deafness, autosomal dominant 25
SLCO1B1 Statin-induced myopathy
Hyperbilirubinemia, Rotor type, digenic
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic
SP7 Osteogenesis imperfecta, type XII
SUOX Sulfocysteinuria
TBK1 Herpes simplex encephalitis
TBX3 Ulnar-Mammary syndrome
TCTN2 Joubert syndrome 24
Meckel syndrome 8
TNFRSF1A Periodic fever, familial (TNF receptor-associated periodic syndrome)
TPI1 Triosephosphate isomerase deficiency
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
WNT10B Split-hand/foot malformation 6
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2

Genes at HGMD

Summary

Number of Variants: 1068
Number of Genes: 482

Export to: CSV

A2M

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs226405
dbSNP Clinvar
9248233 3070.0 T C PASS 1/1 100 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%
View cds 3404_16 12 rs669
dbSNP Clinvar
9232268 292.0 T C PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.25439 0.25440 0.31965 0.34 0.02 None None None None None None A2M|0.10920489|49.36%

A2ML1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs1476910
dbSNP Clinvar
9020912 2018.0 A G PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.67772 0.67770 0.25352 None None None None None None A2ML1|0.011663794|79.48%
View cds 3404_16 12 rs7308811
dbSNP Clinvar
9020489 3070.0 A G PASS 1/1 58 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 cds 3404_16 12 rs1860926
dbSNP Clinvar
9004892 2704.0 C A PASS 1/1 55 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%
View cds 3404_16 12 rs1860927
dbSNP Clinvar
9004512 1854.0 G A PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.86821 0.86820 0.19218 None None None None None None A2ML1|0.011663794|79.48%
View cds 3404_16 12 rs10219561
dbSNP Clinvar
9016573 2451.0 A G PASS 1/1 46 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%

AAAS

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs1546808
dbSNP Clinvar
53703021 1905.0 G A PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.91534 0.91530 0.09373 None None None None None None AAAS|0.160423573|41.47%

ABCC9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs10770865
dbSNP Clinvar
22063115 2220.0 A G PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.99720 0.99720 0.00354 None None None None None None ABCC9|0.261420458|30.64%

ACACB

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs11065772
dbSNP Clinvar
109617865 790.0 T C PASS 0/1 27 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%
View cds 3404_16 12 rs17848802
dbSNP Clinvar
109634834 712.0 A G PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.03634 0.03634 0.02207 0.13 0.07 None None None None None None ACACB|0.108212697|49.54%
View cds 3404_16 12 rs7135947
dbSNP Clinvar
109629457 883.0 C T PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.38139 0.38140 0.44503 None None None None None None ACACB|0.108212697|49.54%
View cds 3404_16 12 rs2878960
dbSNP Clinvar
109577735 854.0 C T PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.39776 0.39780 0.45448 None None None None None None ACACB|0.108212697|49.54%
View cds 3404_16 12 rs2075260
dbSNP Clinvar
109696838 1252.0 G A PASS 1/1 34 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 cds 3404_16 12 rs2241220
dbSNP Clinvar
109675029 2544.0 T C PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.77915 0.77920 0.19699 None None None None None None ACACB|0.108212697|49.54%
View cds 3404_16 12 rs115320291
dbSNP Clinvar
109671838 222.0 C T PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.00559 0.00559 0.00415 None None None None None None ACACB|0.108212697|49.54%

ACADS

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs3915
dbSNP Clinvar
121176679 709.0 C T PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.67312 0.67310 0.40804 None None None None None None ACADS|0.070436549|57.39%
View cds 3404_16 12 rs1799958
dbSNP Clinvar
121176083 282.0 G A PASS 0/1 30 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.18231 0.18230 0.19683 0.01 0.44 None None None None None None ACADS|0.070436549|57.39%
View cds 3404_16 12 rs3914
dbSNP Clinvar
121174899 1322.0 T C PASS 0/1 45 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ACSM4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs7968241
dbSNP Clinvar
7463241 992.0 A T PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.32308 0.32310 0.43174 None None None None None None ACSM4|0.022577905|72.89%

ACSS3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs1921038
dbSNP Clinvar
81627238 300.0 C T PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.17692 0.17690 0.18238 None None None None None None ACSS3|0.295131278|28.03%

ADAMTS20

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs10506226
dbSNP Clinvar
43769228 610.0 A C PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.22244 0.22240 0.26150 None None None None None None ADAMTS20|0.033294654|68.04%
View cds 3404_16 12 rs10880473
dbSNP Clinvar
43769276 650.0 T C PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.22384 0.22380 0.26257 None None None None None None ADAMTS20|0.033294654|68.04%

ADIPOR2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs16928751
dbSNP Clinvar
1890199 473.0 G A PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.10623 0.10620 0.14939 None None None None None None ADIPOR2|0.349639817|24.16%
View cds 3404_16 12 rs35854772
dbSNP Clinvar
1893077 799.0 C A PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.10244 0.10240 0.14647 None None None None None None ADIPOR2|0.349639817|24.16%
View cds 3404_16 12 rs9805042
dbSNP Clinvar
1893170 794.0 C T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.23742 0.23740 0.24050 None None None None None None ADIPOR2|0.349639817|24.16%

AICDA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs2028373
dbSNP Clinvar
8757481 742.0 G A PASS 0/1 29 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs1990312
dbSNP Clinvar
4736495 3070.0 C T PASS 1/1 81 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 cds 3404_16 12 rs2072355
dbSNP Clinvar
4737715 2204.0 C T PASS 0/1 107 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 cds 3404_16 12 rs2072356
dbSNP Clinvar
4737459 1794.0 C T PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.70727 0.70730 0.26196 None None None None None None AKAP3|0.022604217|72.88%
View cds 3404_16 12 rs7960207
dbSNP Clinvar
4737318 2063.0 A G PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.81749 0.81750 0.12133 None None None None None None AKAP3|0.022604217|72.88%
View cds 3404_16 12 rs10774251
dbSNP Clinvar
4736690 2115.0 A G PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.97264 0.97260 0.03283 None None None None None None AKAP3|0.022604217|72.88%
View cds 3404_16 12 rs11063266
dbSNP Clinvar
4736677 3070.0 G C PASS 1/1 98 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 cds 3404_16 12 rs11063265
dbSNP Clinvar
4736631 3070.0 A G PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.98283 0.98280 0.02314 None None None None None None AKAP3|0.022604217|72.88%
View cds 3404_16 12 rs527978551,rs879409318
dbSNP Clinvar
4735970 1393.0 A AC... PASS 0/1 0 CODON_INSERTION MODERATE None 0.01018 0.01018 None None None None None None AKAP3|0.022604217|72.88%
View cds 3404_16 12 rs2072357
dbSNP Clinvar
4735894 684.0 G A PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.15475 0.15480 0.08719 0.02 0.04 None None None None None None AKAP3|0.022604217|72.88%
View cds 3404_16 12 rs2072358
dbSNP Clinvar
4735737 357.0 A G PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.26418 0.26420 0.24789 None None None None None None AKAP3|0.022604217|72.88%

ALDH1L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs4964317
dbSNP Clinvar
105433523 416.0 T A PASS 0/1 46 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%
View cds 3404_16 12 rs11112330
dbSNP Clinvar
105434467 255.0 C T PASS 0/1 34 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%

ALG10B

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs140475027
dbSNP Clinvar
38714351 495.0 T G PASS 0/1 269 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.00400 0.00 0.23 None None None None None None ALG10B|0.041656471|65.23%
View cds 3404_16 12 rs6582584
dbSNP Clinvar
38712142 3070.0 C G PASS 1/1 108 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%
View cds 3404_16 12 rs35518352
dbSNP Clinvar
38715000 1004.0 A G PASS 0/1 113 SYNONYMOUS_CODING LOW None 0.25140 0.25140 0.35336 None None None None None None ALG10B|0.041656471|65.23%

AMDHD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs1982138
dbSNP Clinvar
96346594 1316.0 T C PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.25459 0.25460 0.20231 None None None None None None AMDHD1|0.4419198|18.57%

AMIGO2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs2269828
dbSNP Clinvar
47471439 778.0 G A PASS 0/1 80 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
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RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs138457092
dbSNP Clinvar
110841439 475.0 C G PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.01138 0.01138 0.01092 0.34 0.03 None None None None None None ANAPC7|0.417994348|19.68%

ANHX

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs144454089
dbSNP Clinvar
133795885 1427.0 G A PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.48343 0.48340 0.03 0.02 None None None None None None ANHX|0.002701855|89.23%
View cds 3404_16 12 rs141475940
dbSNP Clinvar
133810703 288.0 G C PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.12999 0.13000 None None None None None None ANHX|0.002701855|89.23%

ANKLE2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs10781634
dbSNP Clinvar
133306589 490.0 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.24720 0.24720 0.31189 0.16 0.24 None None None None None None ANKLE2|0.0109485|80.11%
View cds 3404_16 12 rs1132375
dbSNP Clinvar
133331537 462.0 G A PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.26038 0.26040 0.30305 0.04 0.13 None None None None None None ANKLE2|0.0109485|80.11%

ANKRD13A

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 cds 3404_16 12 rs2287174
dbSNP Clinvar
110474070 750.0 T C PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.08287 0.08287 0.07389 0.26 0.05 None None None None None None ANKRD13A|0.173001404|39.94%,C12orf76|0.006693755|83.86%
View cds 3404_16 12 rs2302689
dbSNP Clinvar
110456175 835.0 A G PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.31150 0.31150 0.31140 None None None None None None ANKRD13A|0.173001404|39.94%

ANKRD33

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs7303030
dbSNP Clinvar
52284483 652.0 A G PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.10503 0.10500 0.17246 None None None None None None ANKRD33|0.021337609|73.52%
View cds 3404_16 12 rs697636
dbSNP Clinvar
52282873 258.0 A T PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.32388 0.32390 0.26403 0.05 0.83 None None None None None None ANKRD33|0.021337609|73.52%
View cds 3404_16 12 rs12368048
dbSNP Clinvar
52284668 742.0 C A PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.16514 0.16510 0.18353 0.00 0.95 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 cds 3404_16 12 rs808919
dbSNP Clinvar
56647911 1830.0 G C PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.80471 0.80470 0.20446 None None None None None None ANKRD52|0.243975122|32.09%

ANKS1B

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs3751323
dbSNP Clinvar
99640428 585.0 T C PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.54832 0.54830 0.39685 None None None None None None ANKS1B|0.915391472|3.1%
View cds 3404_16 12 rs1552759
dbSNP Clinvar
99640557 1999.0 T C PASS 1/1 65 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs3741901
dbSNP Clinvar
6030301 217.0 G A PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.05351 0.05351 0.08737 0.15 0.06 None None None None None None ANO2|0.232649133|33.14%

ANO6

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 cds 3404_16 12 rs2162321
dbSNP Clinvar
45741847 888.0 G A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.03894 0.03894 0.03875 0.02 0.42 None None None None None None ANO6|0.07897756|55.4%
View cds 3404_16 12 rs59243955
dbSNP Clinvar
45823017 681.0 A G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.00938 0.00939 0.00854 0.20 0.00 None None None None None None ANO6|0.07897756|55.4%

APOBEC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs2302515
dbSNP Clinvar
7805236 3070.0 C G PASS 1/1 55 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%
View cds 3404_16 12 rs10431309
dbSNP Clinvar
7803646 617.0 G A PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.24201 0.24200 0.20844 None None None None None None APOBEC1|0.005430298|85.3%

APPL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs935241
dbSNP Clinvar
105568122 1981.0 G A PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%
View cds 3404_16 12 rs935240
dbSNP Clinvar
105568176 2183.0 G A PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%

AQP2

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 cds 3404_16 12 rs426496
dbSNP Clinvar
50348078 3070.0 T C PASS 1/1 68 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs12122
dbSNP Clinvar
49334762 1605.0 G C PASS 1/1 48 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs11544238
dbSNP Clinvar
57870155 648.0 A C PASS 1/1 27 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs4703
dbSNP Clinvar
15095558 539.0 C G PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.48183 0.48180 0.49439 None None None None None None ARHGDIB|0.131635037|45.66%
View cds 3404_16 12 rs2430711
dbSNP Clinvar
15103605 2609.0 A G PASS 1/1 43 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00008 None None None None None None ARHGDIB|0.131635037|45.66%

ART4

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 cds 3404_16 12 rs11276
dbSNP Clinvar
14993439 669.0 C T PASS 0/1 58 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%
View cds 3404_16 12 rs3088189
dbSNP Clinvar
14993608 680.0 G A PASS 0/1 63 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 cds 3404_16 12 rs1861698
dbSNP Clinvar
14993854 850.0 A G PASS 0/1 76 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%

ASB8

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 cds 3404_16 12 rs3936179
dbSNP Clinvar
48543584 1612.0 G C PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.02696 0.02696 0.06474 None None None None None None ASB8|0.328807296|25.56%

ASIC1

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 cds 3404_16 12 rs706793
dbSNP Clinvar
50467769 434.0 G A PASS 0/1 38 None None None 0.22804 0.22800 None None None None None None ASIC1|0.372226278|22.59%
View cds 3404_16 12 rs706792
dbSNP Clinvar
50467644 353.0 G T PASS 0/1 40 None None None 0.22844 0.22840 0.12 0.70 None None None None None None ASIC1|0.372226278|22.59%
View cds 3404_16 12 rs653576
dbSNP Clinvar
50452708 1516.0 C G PASS 1/1 25 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs3210635
dbSNP Clinvar
27064232 3070.0 C T PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.57927 0.57930 0.48731 None None None None None None ASUN|0.615904164|11.26%
View cds 3404_16 12 rs2306852
dbSNP Clinvar
27089540 82.0 A G PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.00639 0.00639 0.00477 0.02 0.17 None None None None None None ASUN|0.615904164|11.26%

ATF1

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 cds 3404_16 12 rs1129406
dbSNP Clinvar
51203371 875.0 C T PASS 0/1 20 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39337 0.39340 0.44687 None None None None None None ATF1|0.419687385|19.6%

ATF7

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 cds 3404_16 12 rs199619535
dbSNP Clinvar
53946367 433.0 A G PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None ATF7|0.474274586|17%

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 cds 3404_16 12 rs3213764
dbSNP Clinvar
14587301 831.0 A G PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.42242 0.01 0.74 None None None None None None ATF7IP|0.114905203|48.34%
View cds 3404_16 12 rs2231909
dbSNP Clinvar
14577892 1069.0 A T PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.32129 0.32130 0.30778 0.12 0.00 None None None None None None ATF7IP|0.114905203|48.34%

ATN1

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 cds 3404_16 12 rs60216939
dbSNP Clinvar
7045891 2324.0 AC... A,... PASS 1/3 0 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATN1|0.702926343|8.41%

ATP6V0A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs7135542
dbSNP Clinvar
124229429 1224.0 T C PASS 0/1 36 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 cds 3404_16 12 rs1399961
dbSNP Clinvar
124210782 2014.0 T C PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.74980 0.74980 0.36014 None None None None None None ATP6V0A2|0.124260234|46.77%
View cds 3404_16 12 rs1139789
dbSNP Clinvar
124209332 2020.0 T C PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.75100 0.75100 0.35338 None None None None None None ATP6V0A2|0.124260234|46.77%

ATXN7L3B

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 cds 3404_16 12 rs590352
dbSNP Clinvar
74932159 1275.0 G C PASS 0/1 35 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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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs2172521
dbSNP Clinvar
58204283 1763.0 T C PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.32 0.00 None None None None None None AVIL|0.110773027|49.04%

AVPR1A

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 cds 3404_16 12 rs1042615
dbSNP Clinvar
63544209 3070.0 A G PASS 1/1 140 SYNONYMOUS_CODING LOW None 0.65076 0.65080 0.33764 None None None None None None AVPR1A|0.145508661|43.64%

B3GNT4

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 cds 3404_16 12 rs7136356
dbSNP Clinvar
122689181 323.0 C G PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.45487 0.45490 0.35489 0.51 0.00 None None None None None None B3GNT4|0.02304241|72.69%
View cds 3404_16 12 rs4758675
dbSNP Clinvar
122691738 2337.0 C A PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.99361 0.99360 0.00738 None None None None None None B3GNT4|0.02304241|72.69%

B4GALNT3

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 cds 3404_16 12 rs111368596
dbSNP Clinvar
662605 864.0 A G PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.02097 0.02097 0.01599 0.57 0.00 None None None None None None B4GALNT3|0.028265322|70.31%
View cds 3404_16 12 rs11063529
dbSNP Clinvar
657404 123.0 G A PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.17951 0.17950 0.21221 0.17 0.04 None None None None None None B4GALNT3|0.028265322|70.31%
View cds 3404_16 12 rs7298766
dbSNP Clinvar
661656 473.0 A G PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.27217 0.27220 0.31424 0.14 0.25 None None None None None None B4GALNT3|0.028265322|70.31%
View cds 3404_16 12 rs149363012
dbSNP Clinvar
670520 119.0 C T PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.00539 0.01538 0.01 0.98 None None None None None None B4GALNT3|0.028265322|70.31%
View cds 3404_16 12 rs1056008
dbSNP Clinvar
662838 2149.0 T C PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.28435 0.28430 0.30123 None None None None None None B4GALNT3|0.028265322|70.31%
View cds 3404_16 12 rs78016283
dbSNP Clinvar
662676 671.0 C T PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.02716 0.02716 0.01699 None None None None None None B4GALNT3|0.028265322|70.31%
View cds 3404_16 12 rs758790
dbSNP Clinvar
662448 3070.0 T C PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.84724 0.84720 0.26572 None None None None None None B4GALNT3|0.028265322|70.31%

BCL2L14

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View cds 3404_16 12 rs879732
dbSNP Clinvar
12240199 2202.0 C T PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.46486 0.46490 0.48032 None None None None None None BCL2L14|0.005004666|85.81%
View cds 3404_16 12 rs11054683
dbSNP Clinvar
12247616 1843.0 T C PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.16014 0.16010 0.23443 None None None None None None BCL2L14|0.005004666|85.81%