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Genes:
A2M, A2ML1, AAAS, ABCC9, ACACB, ACSM4, ACSS3, ACVRL1, ADAMTS20, ADCY6, ADIPOR2, AGAP2, AICDA, AKAP3, ALG10B, ALKBH2, ALX1, AMDHD1, ANHX, ANKLE2, ANKRD13A, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO4, APOBEC1, APPL2, AQP2, ARF3, ARHGAP9, ARHGDIB, ARID2, ASCL1, ASIC1, ASUN, ATF1, ATF7IP, ATP2B1, ATP6V0A2, ATXN2, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT3, BBS10, BCL2L14, BCL7A, BEST3, BHLHE41, BICD1, BIN2, BTBD11, C12orf10, C12orf29, C12orf4, C12orf40, C12orf42, C12orf43, C12orf54, C12orf56, C12orf60, C12orf66, C12orf68, C12orf71, C12orf77, C1R, C2CD5, CACNA1C, CACNA2D4, CACNB3, CAMKK2, CAND1, CAPRIN2, CAPS2, CASC1, CCDC38, CCDC41, CCDC53, CCDC60, CCDC63, CCDC65, CCDC77, CCDC91, CCDC92, CCND2, CCNT1, CCT2, CD163, CD163L1, CD27, CELA1, CEP290, CHFR, CHPT1, CIT, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC4A, CLEC4C, CLEC4D, CLEC7A, CLEC9A, CLIP1, CLLU1, CMKLR1, CNTN1, COL2A1, COPS7A, COQ10A, CPM, CPNE8, CPSF6, CRY1, CS, CSAD, CUX2, DAZAP2, DBX2, DDX11, DDX23, DDX51, DDX55, DGKA, DHH, DHX37, DIP2B, DNAH10, DPPA3, DPY19L2, DUSP16, DUSP6, DYRK2, DYRK4, E2F7, EEA1, EFCAB4B, EID3, EIF4B, EMG1, EP400, ERBB3, ERC1, ESPL1, FAM101A, FAM186A, FAM216A, FAM90A1, FBXW8, FGD4, FGD6, FGF23, FGF6, FOXM1, FOXN4, FRS2, FZD10, GALNT4, GALNT8, GALNT9, GAS2L3, GCN1L1, GDF3, GIT2, GLI1, GLT1D1, GNPTAB, GNS, GOLGA3, GPD1, GPR133, GPR19, GPRC5A, GRIN2B, GRIP1, GUCY2C, GYS2, H1FNT, HAL, HCAR2, HCAR3, HDAC7, HEBP1, HELB, HIP1R, HNF1A, HOXC11, HOXC4, HOXC9, HPD, IFLTD1, IKZF4, IL23A, ING4, IPO8, IQSEC3, IRAK3, ISCU, ITGA5, ITGA7, ITPR2, KANSL2, KCNA1, KCNA5, KCNH3, KERA, KIAA1033, KIAA1467, KIF21A, KLHL42, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRG1, KLRK1, KMT2D, KNTC1, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT83, KRT84, KRT86, KSR2, LAG3, LALBA, LDHB, LEPREL2, LGR5, LMBR1L, LRIG3, LRMP, LRP1, LRP6, LRRC43, LRRIQ1, LRRK2, LTBR, MANSC1, MANSC4, MDM1, MED13L, MED21, METTL20, METTL25, MFSD5, MLF2, MMAB, MMP17, MMP19, MON2, MPHOSPH9, MRPS35, MUCL1, MVK, MYBPC1, MYO1H, NACA, NANOG, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCOR2, NOS1, NR1H4, NR4A1, NUP107, NXPH4, OAS1, OAS2, OAS3, OASL, OR10AD1, OR6C4, OR6C65, OR6C74, OR8S1, OR9K2, ORAI1, OS9, OTOGL, OVCH1, P2RX2, P2RX4, P2RX7, PAH, PAN2, PARPBP, PAWR, PDE3A, PFKM, PHC1, PHLDA1, PIK3C2G, PIP4K2C, PIWIL1, PKP2, PLBD1, PLEKHG6, PLEKHG7, PLXNC1, PMEL, POLE, POLR3B, POP5, PPFIA2, PPFIBP1, PPP1CC, PPP1R1A, PRB4, PRDM4, PRH2, PRICKLE1, PRIM1, PRMT8, PRR4, PSMD9, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PXN, PZP, RAB21, RAD9B, RAP1B, RAPGEF3, RASAL1, RASSF3, RBM19, RBMS2, REP15, RHNO1, RILPL1, RIMBP2, RIMKLB, RND1, RNFT2, RPH3A, SART3, SBNO1, SCN8A, SCYL2, SETD1B, SFSWAP, SH2B3, SLC11A2, SLC15A5, SLC16A7, SLC26A10, SLC2A14, SLC2A3, SLC38A2, SLC38A4, SLC39A5, SLC5A8, SLC6A12, SLC6A13, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SP7, SPRYD4, SRGAP1, SRRM4, ST8SIA1, STAB2, STAT2, STK38L, STX2, STYK1, SUOX, SYT1, TAOK3, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R46, TAS2R50, TAS2R8, TAS2R9, TBK1, TCHP, TCP11L2, TCTN2, TEAD4, TENC1, TESPA1, TIMELESS, TMBIM4, TMCC3, TMED2, TMEM106C, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM233, TMPRSS12, TMTC3, TPH2, TRPV4, TSPAN11, TSPAN8, TSPAN9, TUBA1A, TUBA1B, TUBA1C, TULP3, TXNRD1, UBC, UBE3B, UHRF1BP1L, ULK1, USP15, USP30, USP44, UTP20, VAMP1, VDR, VEZT, VSIG10, VWF, WDR66, WIBG, WIF1, WNK1, WNT1, WNT10B, ZDHHC17, ZFC3H1, ZNF268,

Genes at Omim

A2M, A2ML1, AAAS, ABCC9, ACVRL1, ADCY6, AICDA, ALG10B, ALX1, ANKLE2, AQP2, ARID2, ASCL1, ATP6V0A2, ATXN2, BBS10, BCL7A, BHLHE41, C12orf4, C1R, CACNA1C, CACNA2D4, CCDC65, CCND2, CD27, CEP290, CIT, CLEC1A, CLEC7A, CNTN1, COL2A1, CRY1, CUX2, DDX11, DHH, DIP2B, DPY19L2, DUSP6, EMG1, ERBB3, FGD4, FGF23, GDF3, GLI1, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, IRAK3, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIF21A, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MMAB, MMP19, MVK, MYBPC1, NCAPD2, NR1H4, NUP107, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, PKP2, POLE, POLR3B, PRICKLE1, PTPRO, PTPRQ, SCN8A, SH2B3, SLC11A2, SLC39A5, SLCO1B1, SLCO1B3, SP7, SRGAP1, STAT2, SUOX, SYT1, TBK1, TCTN2, TMTC3, TPH2, TRPV4, TUBA1A, UBE3B, VAMP1, VDR, VWF, WDR66, WNK1, WNT1, WNT10B,
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)
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (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)
ALX1 ?Frontonasal dysplasia 3, 613456 (3)
ANKLE2 ?Microcephaly 16, primary, autosomal recessive, 616681 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ARID2 Coffin-Siris syndrome 6, 617808 (3)
ASCL1 Haddad syndrome, 209880 (3)
Central hypoventilation syndrome, congenital, 209880 (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)
BBS10 Bardet-Biedl syndrome 10, 615987 (3)
BCL7A B-cell non-Hodgkin lymphoma, high-grade (3)
BHLHE41 [Short sleeper], 612975 (3)
C12orf4 Mental retardation, autosomal recessive 66, 618221 (3)
C1R Ehlers-Danlos syndrome, periodontal type, 1, 130080 (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)
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)
CD27 Lymphoproliferative syndrome 2, 615122 (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)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLEC1A {Aspergillosis, susceptibility to}, 614079 (3)
CLEC7A Candidiasis, familial, 4, autosomal recessive, 613108 (3)
{Aspergillosis, susceptibility to}, 614079 (3)
CNTN1 ?Myopathy, congenital, Compton-North, 612540 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
CRY1 {Delayed sleep phase disorder, susceptibility to}, 614163 (3)
CUX2 Epileptic encephalopathy, early infantile, 67, 618141 (3)
DDX11 Warsaw breakage syndrome, 613398 (3)
DHH 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3)
46XY sex reversal 7, 233420 (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)
FGD4 Charcot-Marie-Tooth disease, type 4H, 609311 (3)
FGF23 Hypophosphatemic rickets, autosomal dominant, 193100 (3)
Osteomalacia, tumor-induced (1)
Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3)
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)
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)
KMT2D Kabuki syndrome 1, 147920 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
KRT1 Ichthyosis histrix, Curth-Macklin type, 146590 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
Keratosis palmoplantaris striata III, 607654 (3)
Palmoplantar keratoderma, epidermolytic, 144200 (3)
Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)
KRT4 White sponge nevus 1, 193900 (3)
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)
MED13L Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3)
Transposition of the great arteries, dextro-looped 1, 608808 (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)
NR1H4 Cholestasis, progressive familial intrahepatic, 5, 617049 (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)
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)
PRICKLE1 Epilepsy, progressive myoclonic 1B, 612437 (3)
PTPRO Nephrotic syndrome, type 6, 614196 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
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)
SH2B3 Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
SLC11A2 Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)
SLC39A5 Myopia 24, autosomal dominant, 615946 (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)
STAT2 Immunodeficiency 44, 616636 (3)
SUOX Sulfite oxidase deficiency, 272300 (3)
SYT1 Baker-Gordon syndrome, 618218 (3)
TBK1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3)
TCTN2 Joubert syndrome 24, 616654 (3)
?Meckel syndrome 8, 613885 (3)
TMTC3 Lissencephaly 8, 617255 (3)
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)
TUBA1A Lissencephaly 3, 611603 (3)
UBE3B Kaufman oculocerebrofacial syndrome, 244450 (3)
VAMP1 Myasthenic syndrome, congenital, 25, 618323 (3)
Spastic ataxia 1, autosomal dominant, 108600 (3)
VDR ?Osteoporosis, involutional, 166710 (1)
Rickets, vitamin D-resistant, type IIA, 277440 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WDR66 Spermatogenic failure 33, 618152 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
WNT1 {Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3)
Osteogenesis imperfecta, type XV, 615220 (3)
WNT10B Split-hand/foot malformation 6, 225300 (3)
Tooth agenesis, selective, 8, 617073 (3)

Genes at Clinical Genomics Database

A2M, AAAS, ABCC9, ACVRL1, ADCY6, AICDA, ALX1, ANKLE2, AQP2, ASCL1, ATP6V0A2, ATXN2, BBS10, BHLHE41, CACNA1C, CACNA2D4, CCDC65, CCND2, CD27, CEP290, CLEC7A, CNTN1, COL2A1, DDX11, DHH, DIP2B, DPY19L2, DUSP6, EMG1, ERBB3, FGD4, FGF23, GDF3, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIAA1033, KIF21A, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MMAB, MMP19, MVK, MYBPC1, NUP107, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, PKP2, POLE, POLR3B, PRICKLE1, PTPRO, PTPRQ, SART3, SCN8A, SLC11A2, SLC39A5, SLCO1B1, SLCO1B3, SP7, STAT2, SUOX, TBK1, TCTN2, TRPV4, TUBA1A, UBE3B, VAMP1, VDR, VWF, WNK1, WNT1, WNT10B,
A2M Alpha-2-macroglobulin deficiency
AAAS Achalasia-addisonianism-alacrimia syndrome
ABCC9 Cardiomyopathy, dilated, 10
Atrial fibrillation, familial 12
Cantu syndrome
ACVRL1 Hereditary hemorrhagic telangiectasia, type 2
ADCY6 Lethal congenital contracture syndrome 8
AICDA Immunodeficiency with hyper-IgM, type 2
ALX1 Frontonasal dysplasia 3
ANKLE2 Microcephaly, primary autosomal recessive, 16
AQP2 Diabetes insipidus, nephrogenic, autosomal
ASCL1 Central hypoventilation syndrome, congenital (Haddad syndrome)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
ATXN2 Spinocerebellar ataxia 2
BBS10 Bardet-Biedl syndrome 10
BHLHE41 Short sleeper
CACNA1C Brugada syndrome 3
Timothy syndrome
CACNA2D4 Retinal cone dystrophy 4
CCDC65 Ciliary dyskinesia, primary, 27
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CD27 Lymphoproliferative syndrome 2
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CLEC7A Candidiasis, familial, 4
CNTN1 Myopathy, congenital, Compton-North
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
DDX11 Warsaw breakage syndrome
DHH 46,XY partial gonadal dysgenesis, with minifascicular neuropathy
46,XY sex reversal 7
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
FGD4 Charcot-Marie-Tooth disease, type 4H
FGF23 Hypophosphatemic rickets, autosomal dominant
Tumoral calcinosis, hyperphosphatemic
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
KMT2D Kabuki syndrome 1
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
KRT1 Keratosis palmoplantaris striata III
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Ichthyosis histrix, Curth-Macklin type
Palmoplantar keratoderma, epidermolytic
Palmoplantar keratoderma, nonepidermolytic
Epidermolytic hyperkeratosis
KRT2 Ichthyosis bullosa of Siemens
Ichthyosis exfoliativa
KRT3 Meesmann corneal dystrophy
KRT4 White sponge nevus 1
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
MED13L Transposition of the great arteries, dextro-looped 1
Mental retardation and distinctive facial features with or without cardiac defects
Congenital heart defects and intellectual disability
Intellectual disability, autosomal recessive
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
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
PRICKLE1 Epilepsy, progressive myoclonic, 1B
PTPRO Nephrotic syndrome, type 6
PTPRQ Deafness, autosomal recessive 84
SART3 Porokeratosis, disseminated superficial actinic, 1
SCN8A Cognitive impairment with or without cerebellar ataxia
Epileptic encephalopathy, early infantile, 13
SLC11A2 Anemia, hypochromic microcytic, with iron overload
SLC39A5 Myopia 24
SLCO1B1 Statin-induced myopathy
Hyperbilirubinemia, Rotor type, digenic
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic
SP7 Osteogenesis imperfecta, type XII
STAT2 Immunodeficiency 44
SUOX Sulfocysteinuria
TBK1 Herpes simplex encephalitis
TCTN2 Joubert syndrome 24
Meckel syndrome 8
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
TUBA1A Lissencephaly 3
UBE3B Blepharophimosis-Ptosis-Intellectual-Disability syndrome (Kaufman oculocerebrofacial syndrome)
VAMP1 Spastic ataxia 1, autosomal dominant
VDR Vitamin D-dependent rickets, type 2A
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
WNT1 Osteoprosis, autosomal dominant
Osteogenesis imperfecta, type XV
WNT10B Split-hand/foot malformation 6

Genes at HGMD

Summary

Number of Variants: 1997
Number of Genes: 468

Export to: CSV

A2M

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 045_tsvc_variants 12 rs226405
dbSNP Clinvar
9248233 459.53 T C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.99780 0.99780 0.00235 0.91 0.00 None None None None None None A2M|0.10920489|49.36%

A2ML1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs1860927
dbSNP Clinvar
9004512 1853.05 G A PASS 1/1 194 SYNONYMOUS_CODING LOW None 0.86821 0.86820 0.19218 None None None None None None A2ML1|0.011663794|79.48%
View 045_tsvc_variants 12 rs10219561
dbSNP Clinvar
9016573 1639.72 A G PASS 1/1 170 NON_SYNONYMOUS_CODING MODERATE None 0.96785 0.96790 0.03189 0.54 0.00 None None None None None None A2ML1|0.011663794|79.48%
View 045_tsvc_variants 12 rs1860967
dbSNP Clinvar
9013755 183.37 C T PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.43231 0.43230 0.30165 0.02 0.60 None None None None None None A2ML1|0.011663794|79.48%
View 045_tsvc_variants 12 rs11612600
dbSNP Clinvar
9010671 137.95 G A PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.25439 0.25440 0.30652 None None None None None None A2ML1|0.011663794|79.48%
View 045_tsvc_variants 12 rs1558526
dbSNP Clinvar
9009820 80.69 G A PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.11122 0.11120 0.18966 0.00 1.00 None None None None None None A2ML1|0.011663794|79.48%
View 045_tsvc_variants 12 rs1860926
dbSNP Clinvar
9004892 1957.68 C A PASS 1/1 212 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 045_tsvc_variants 12 rs1476910
dbSNP Clinvar
9020912 494.2 A G PASS 0/1 211 SYNONYMOUS_CODING LOW None 0.67772 0.67770 0.25352 None None None None None None A2ML1|0.011663794|79.48%
View 045_tsvc_variants 12 rs7308811
dbSNP Clinvar
9020489 306.07 A G PASS 1/1 33 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%

AAAS

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View 045_tsvc_variants 12 rs1546808
dbSNP Clinvar
53703021 1512.57 G A PASS 1/1 178 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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View 045_tsvc_variants 12 rs10770865
dbSNP Clinvar
22063115 1012.81 A G PASS 1/1 105 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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View 045_tsvc_variants 12 rs7135947
dbSNP Clinvar
109629457 273.81 C T PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.38139 0.38140 0.44503 None None None None None None ACACB|0.108212697|49.54%
View 045_tsvc_variants 12 rs2241220
dbSNP Clinvar
109675029 2998.28 T C PASS 1/1 330 SYNONYMOUS_CODING LOW None 0.77915 0.77920 0.19699 None None None None None None ACACB|0.108212697|49.54%
View 045_tsvc_variants 12 rs4766516
dbSNP Clinvar
109605730 606.33 C T PASS 0/1 243 SYNONYMOUS_CODING LOW None 0.23163 0.23160 0.15708 None None None None None None ACACB|0.108212697|49.54%
View 045_tsvc_variants 12 rs11065772
dbSNP Clinvar
109617865 1459.49 T C PASS 1/1 153 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%
View 045_tsvc_variants 12 rs2300455
dbSNP Clinvar
109623516 239.68 G A PASS 0/1 121 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.15955 0.15950 0.14624 0.04 1.00 None None None None None None ACACB|0.108212697|49.54%
View 045_tsvc_variants 12 rs2075260
dbSNP Clinvar
109696838 288.17 G A PASS 1/1 32 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 045_tsvc_variants 12 rs3742023
dbSNP Clinvar
109693982 491.72 C T PASS 0/1 219 SYNONYMOUS_CODING LOW None 0.25519 0.25520 0.28933 None None None None None None ACACB|0.108212697|49.54%
View 045_tsvc_variants 12 rs2878960
dbSNP Clinvar
109577735 1227.88 C T PASS 1/1 129 SYNONYMOUS_CODING LOW None 0.39776 0.39780 0.45448 None None None None None None ACACB|0.108212697|49.54%

ACSM4

Omim - GeneCards - NCBI
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View 045_tsvc_variants 12 rs7968241
dbSNP Clinvar
7463241 1181.71 A T PASS 1/1 124 SYNONYMOUS_CODING LOW None 0.32308 0.32310 0.43174 None None None None None None ACSM4|0.022577905|72.89%

ACSS3

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View 045_tsvc_variants 12 rs1921038
dbSNP Clinvar
81627238 298.93 C T PASS 0/1 179 SYNONYMOUS_CODING LOW None 0.17692 0.17690 0.18238 None None None None None None ACSS3|0.295131278|28.03%

ACVRL1

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View 045_tsvc_variants 12 rs77341011
dbSNP Clinvar
52307359 382.47 G A PASS 0/1 226 SYNONYMOUS_CODING LOW None 0.01318 0.01318 0.01401 None None None None None None ACVRL1|0.108673601|49.42%
View 045_tsvc_variants 12 rs2277382
dbSNP Clinvar
52306221 417.81 C T PASS 0/1 201 NON_SYNONYMOUS_CODING MODERATE None 0.06410 0.06410 0.07620 0.00 0.00 None None None None None None ACVRL1|0.108673601|49.42%

ADAMTS20

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View 045_tsvc_variants 12 rs10880473
dbSNP Clinvar
43769276 115.53 T C PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.22384 0.22380 0.26257 None None None None None None ADAMTS20|0.033294654|68.04%
View 045_tsvc_variants 12 rs10506226
dbSNP Clinvar
43769228 129.59 A C PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.22244 0.22240 0.26150 None None None None None None ADAMTS20|0.033294654|68.04%
View 045_tsvc_variants 12 rs757782268
dbSNP Clinvar
43819478 221.99 C T PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ADAMTS20|0.033294654|68.04%

ADCY6

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View 045_tsvc_variants 12 rs2453486
dbSNP Clinvar
49177113 48.48 T G PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.29213 0.29210 0.26965 None None None None None None ADCY6|0.441849668|18.58%

ADIPOR2

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View 045_tsvc_variants 12 rs9805042
dbSNP Clinvar
1893170 101.71 C T PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.23742 0.23740 0.24050 None None None None None None ADIPOR2|0.349639817|24.16%

AGAP2

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View 045_tsvc_variants 12 rs17852479
dbSNP Clinvar
58126234 1923.84 C A PASS 1/1 206 SYNONYMOUS_CODING LOW None 0.21566 0.21570 0.31812 None None None None None None AGAP2|0.196777896|37.07%

AICDA

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View 045_tsvc_variants 12 rs186739900
dbSNP Clinvar
8759569 251.2 T C PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.00080 0.00080 0.00108 None None None None None None AICDA|0.345530644|24.45%

AKAP3

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs1990312
dbSNP Clinvar
4736495 1238.16 C T PASS 1/1 134 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 045_tsvc_variants 12 rs2072355
dbSNP Clinvar
4737715 492.7 C T PASS 0/1 225 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 045_tsvc_variants 12 rs2072356
dbSNP Clinvar
4737459 137.81 C T PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.70727 0.70730 0.26196 None None None None None None AKAP3|0.022604217|72.88%
View 045_tsvc_variants 12 rs7960207
dbSNP Clinvar
4737318 1118.13 A G PASS 1/1 117 SYNONYMOUS_CODING LOW None 0.81749 0.81750 0.12133 None None None None None None AKAP3|0.022604217|72.88%
View 045_tsvc_variants 12 rs10774251
dbSNP Clinvar
4736690 768.75 A G PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.97264 0.97260 0.03283 None None None None None None AKAP3|0.022604217|72.88%
View 045_tsvc_variants 12 rs11063266
dbSNP Clinvar
4736677 738.61 G C PASS 1/1 81 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 045_tsvc_variants 12 rs11063265
dbSNP Clinvar
4736631 1924.76 A G PASS 1/1 204 SYNONYMOUS_CODING LOW None 0.98283 0.98280 0.02314 None None None None None None AKAP3|0.022604217|72.88%
View 045_tsvc_variants 12 rs12366671
dbSNP Clinvar
4736569 312.54 A G PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.08826 0.08826 0.11433 0.96 0.00 None None None None None None AKAP3|0.022604217|72.88%
View 045_tsvc_variants 12 rs2072358
dbSNP Clinvar
4735737 114.15 A G PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.26418 0.26420 0.24789 None None None None None None AKAP3|0.022604217|72.88%

ALG10B

Omim - GeneCards - NCBI
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View 045_tsvc_variants 12 rs35518352
dbSNP Clinvar
38715000 196.05 A G PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.25140 0.25140 0.35336 None None None None None None ALG10B|0.041656471|65.23%
View 045_tsvc_variants 12 rs6582584
dbSNP Clinvar
38712142 519.8 C G PASS 1/1 55 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%

ALKBH2

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View 045_tsvc_variants 12 rs33962311
dbSNP Clinvar
109526189 112.4 C T PASS 0/1 91 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01178 0.01178 0.01399 0.03 0.97 None None None None None None ALKBH2|0.007056546|83.44%

ALX1

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View 045_tsvc_variants 12 rs116409037
dbSNP Clinvar
85674087 149.85 A G PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.00879 0.00879 0.01176 None None None None None None ALX1|0.65864767|9.77%

AMDHD1

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View 045_tsvc_variants 12 rs7955450
dbSNP Clinvar
96337183 230.92 A G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.71845 0.71850 0.56 0.00 None None None None None None AMDHD1|0.4419198|18.57%

ANHX

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View 045_tsvc_variants 12 rs144454089
dbSNP Clinvar
133795885 985.97 G A PASS 1/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.48343 0.48340 0.03 0.02 None None None None None None ANHX|0.002701855|89.23%

ANKLE2

Omim - GeneCards - NCBI
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View 045_tsvc_variants 12 . 133306590 66.25 G T PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ANKLE2|0.0109485|80.11%
View 045_tsvc_variants 12 rs1132375
dbSNP Clinvar
133331537 207.19 G A PASS 0/1 70 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%
View 045_tsvc_variants 12 rs10781634
dbSNP Clinvar
133306589 253.84 C T PASS 0/1 136 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%

ANKRD13A

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 045_tsvc_variants 12 rs2302689
dbSNP Clinvar
110456175 174.23 A G PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.31150 0.31150 0.31140 None None None None None None ANKRD13A|0.173001404|39.94%
View 045_tsvc_variants 12 rs2287174
dbSNP Clinvar
110474070 273.39 T C PASS 0/1 98 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%

ANKRD33

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 045_tsvc_variants 12 rs35680116
dbSNP Clinvar
52284447 598.31 C T PASS 0/1 312 SYNONYMOUS_CODING LOW None 0.01757 0.01757 0.05059 None None None None None None ANKRD33|0.021337609|73.52%

ANKRD52

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 045_tsvc_variants 12 rs808919
dbSNP Clinvar
56647911 373.11 G C PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.80471 0.80470 0.20446 None None None None None None ANKRD52|0.243975122|32.09%
View 045_tsvc_variants 12 rs59626664
dbSNP Clinvar
56636975 331.06 C G PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.03215 0.03215 0.04423 0.67 0.01 None None None None None None ANKRD52|0.243975122|32.09%
View 045_tsvc_variants 12 rs1274490
dbSNP Clinvar
56649601 162.33 A G PASS 0/1 40 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs1552759
dbSNP Clinvar
99640557 121.89 T C PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.63219 0.63220 0.43523 None None None None None None ANKS1B|0.915391472|3.1%
View 045_tsvc_variants 12 rs3751323
dbSNP Clinvar
99640428 325.38 T C PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.54832 0.54830 0.39685 None None None None None None ANKS1B|0.915391472|3.1%

ANO2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs2277398
dbSNP Clinvar
5674754 946.96 G A PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.34225 0.34230 0.39520 None None None None None None ANO2|0.232649133|33.14%
View 045_tsvc_variants 12 rs3741901
dbSNP Clinvar
6030301 607.94 G A PASS 0/1 269 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%

ANO4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs34182255
dbSNP Clinvar
101295602 240.04 C G PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.12001 0.12000 0.13924 None None None None None None ANO4|0.60629619|11.58%
View 045_tsvc_variants 12 rs1055734
dbSNP Clinvar
101520689 362.12 A G PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.14717 0.14720 0.13732 None None None None None None ANO4|0.60629619|11.58%

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 045_tsvc_variants 12 rs10431309
dbSNP Clinvar
7803646 76.72 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.24201 0.24200 0.20844 None None None None None None APOBEC1|0.005430298|85.3%
View 045_tsvc_variants 12 rs2302515
dbSNP Clinvar
7805236 1841.0 C G PASS 1/1 191 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%

APPL2

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 045_tsvc_variants 12 rs2293643
dbSNP Clinvar
105600935 467.2 G A PASS 0/1 142 SYNONYMOUS_CODING LOW None 0.18351 0.18350 0.16023 None None None None None None APPL2|0.118101014|47.72%
View 045_tsvc_variants 12 rs935240
dbSNP Clinvar
105568176 940.79 G A PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%
View 045_tsvc_variants 12 rs935241
dbSNP Clinvar
105568122 950.41 G A PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%
View 045_tsvc_variants 12 rs2272495
dbSNP Clinvar
105583877 216.55 G A PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.18730 0.18730 0.22 0.05 None None None None None None APPL2|0.118101014|47.72%
View 045_tsvc_variants 12 rs12303948
dbSNP Clinvar
105591569 276.41 G A PASS 0/1 155 SYNONYMOUS_CODING LOW None 0.13059 0.13060 0.14801 None None None None None None APPL2|0.118101014|47.72%

AQP2

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 045_tsvc_variants 12 rs426496
dbSNP Clinvar
50348078 551.32 T C PASS 0/1 212 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 045_tsvc_variants 12 rs12122
dbSNP Clinvar
49334762 2170.13 G C PASS 1/1 223 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs11544238
dbSNP Clinvar
57870155 1787.51 A C PASS 1/1 189 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs4703
dbSNP Clinvar
15095558 796.93 C G PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.48183 0.48180 0.49439 None None None None None None ARHGDIB|0.131635037|45.66%
View 045_tsvc_variants 12 rs2430711
dbSNP Clinvar
15103605 1272.59 A G PASS 1/1 135 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00008 None None None None None None ARHGDIB|0.131635037|45.66%

ARID2

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 045_tsvc_variants 12 . 46245717 43.35 T A PASS 0/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.03 None None None None None None ARID2|0.622938783|11.02%

ASCL1

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 045_tsvc_variants 12 rs794726916
dbSNP Clinvar
103352171 101.58 CG... C PASS 0/1 43 CODON_DELETION MODERATE None None None None None None None PAH|0.397123463|20.97%,ASCL1|0.898371145|3.46%

ASIC1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs653576
dbSNP Clinvar
50452708 1093.32 C G PASS 1/1 119 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs3210635
dbSNP Clinvar
27064232 673.07 C T PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.57927 0.57930 0.48731 None None None None None None ASUN|0.615904164|11.26%

ATF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs17291650
dbSNP Clinvar
51213433 56.72 A G PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.03654 0.03654 0.06745 None None None None None None ATF1|0.419687385|19.6%

ATF7IP

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 045_tsvc_variants 12 rs2231909
dbSNP Clinvar
14577892 180.3 A T PASS 0/1 42 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%
View 045_tsvc_variants 12 rs61754407
dbSNP Clinvar
14613700 340.72 A G PASS 0/1 158 SYNONYMOUS_CODING LOW None 0.02656 0.02656 0.00946 None None None None None None ATF7IP|0.114905203|48.34%

ATP2B1

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 045_tsvc_variants 12 rs1050395
dbSNP Clinvar
90028901 156.33 T C PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.12081 0.12080 0.18368 None None None None None None ATP2B1|0.788695463|6.13%

ATP6V0A2

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 045_tsvc_variants 12 rs7135542
dbSNP Clinvar
124229429 786.1 T C PASS 1/1 83 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 045_tsvc_variants 12 rs1399961
dbSNP Clinvar
124210782 770.33 T C PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.74980 0.74980 0.36014 None None None None None None ATP6V0A2|0.124260234|46.77%
View 045_tsvc_variants 12 rs1139789
dbSNP Clinvar
124209332 661.98 T C PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.75100 0.75100 0.35338 None None None None None None ATP6V0A2|0.124260234|46.77%

ATXN2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs695872
dbSNP Clinvar
112036929 116.17 G A PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.44429 0.44430 None None None None None None ATXN2|0.872313714|4.16%
View 045_tsvc_variants 12 rs695871
dbSNP Clinvar
112037000 116.17 G C PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.44429 0.44430 0.41 0.00 None None None None None None ATXN2|0.872313714|4.16%

ATXN7L3B

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 045_tsvc_variants 12 rs590352
dbSNP Clinvar
74932159 361.71 G C PASS 0/1 153 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs2172521
dbSNP Clinvar
58204283 953.07 T C PASS 1/1 99 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
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs1042615
dbSNP Clinvar
63544209 101.46 A G PASS 0/1 23 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
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs4758675
dbSNP Clinvar
122691738 2316.07 C A PASS 1/1 243 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 045_tsvc_variants 12 rs758790
dbSNP Clinvar
662448 2168.52 T C PASS 1/1 229 SYNONYMOUS_CODING LOW None 0.84724 0.84720 0.26572 None None None None None None B4GALNT3|0.028265322|70.31%

BBS10

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 045_tsvc_variants 12 rs35676114
dbSNP Clinvar
76740149 256.82 G A PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.03355 0.03355 0.05513 0.47 0.00 None None None None None None BBS10|0.059884533|59.89%

BCL2L14

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 045_tsvc_variants 12 rs879732
dbSNP Clinvar
12240199 2863.39 C T PASS 1/1 295 SYNONYMOUS_CODING LOW None 0.46486 0.46490 0.48032 None None None None None None BCL2L14|0.005004666|85.81%

BCL7A

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 045_tsvc_variants 12 rs28629903
dbSNP Clinvar
122497001 1082.82 T C PASS 1/1 128 SYNONYMOUS_CODING LOW None 0.50539 0.50540 0.49854 None None None None None None BCL7A|0.16853865|40.51%

BEST3

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 045_tsvc_variants 12 rs775429
dbSNP Clinvar
70091432 604.61 T C PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.97324 0.97320 0.02361 None None None None None None BEST3|0.093001289|52.62%
View 045_tsvc_variants 12 rs1025016
dbSNP Clinvar
70091452 183.77 A G PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.05831 0.05831 0.06814 0.00 1.00 None None None None None None BEST3|0.093001289|52.62%

BHLHE41

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 045_tsvc_variants 12 . 26275348 15.55 A T PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.65 None None None None None None BHLHE41|0.032118542|68.55%,SSPN|0.102404332|50.72%

BICD1

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 045_tsvc_variants 12 rs3748275
dbSNP Clinvar
32481093 835.13 G C PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.26458 0.26460 0.18861 None None None None None None BICD1|0.069048609|57.71%

BIN2

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 045_tsvc_variants 12 rs3210837
dbSNP Clinvar
51685831 288.17 T C PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.78115 0.78120 0.22928 None None None None None None BIN2|0.023359336|72.5%
View 045_tsvc_variants 12 rs7954976
dbSNP Clinvar
51681903 817.38 T C PASS 1/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.83447 0.83450 0.19537 1.00 0.00 None None None None None None BIN2|0.023359336|72.5%

BTBD11

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 045_tsvc_variants 12 rs1558781
dbSNP Clinvar
107937768 169.38 G A PASS 0/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.17632 0.17630 0.14678 0.37 0.01 None None None None None None BTBD11|0.286570373|28.6%