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+ Genes 448

Genes:
A2M, A2ML1, AAAS, ABCC9, AC026310.1, ACACB, ACADS, ACSM4, ACVRL1, ADAMTS20, ADCY6, AGAP2, AICDA, AKAP3, ALDH1L2, ALG10B, ALKBH2, AMDHD1, AMIGO2, ANHX, ANKRD33, ANKRD52, ANO2, APOBEC1, APPL2, AQP2, ARF3, ARHGDIB, ASIC1, ASUN, ATF7, ATF7IP, ATN1, ATP2A2, ATXN7L3B, AVIL, B3GNT4, B4GALNT3, BCL2L14, BEST3, BHLHE41, BICD1, BIN2, BTBD11, C12orf10, C12orf29, C12orf4, C12orf42, C12orf43, C12orf50, C12orf56, C12orf60, C12orf66, C12orf68, C12orf71, C12orf77, C1R, C1RL, C2CD5, CACNA1C, CACNA2D4, CACNB3, CAND1, CAPRIN2, CASC1, CCDC38, CCDC53, CCDC60, CCND2, CCNT1, CD163, CD163L1, CD27, CD4, CDKN1B, CELA1, CEP290, CHFR, CHPT1, CIT, CLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2D, CLEC4A, CLEC4D, CLEC9A, CLECL1, CLIP1, CLLU1, CLSTN3, CMKLR1, CNTN1, COL2A1, COPS7A, COQ5, CPM, CPNE8, CPSF6, CRY1, CUX2, DAO, DAZAP2, DBX2, DCP1B, DDIT3, DDX11, DDX23, DDX47, DDX51, DDX55, DGKA, DHX37, DIP2B, DNAH10, DUSP6, DYNLL1, DYRK2, DYRK4, E2F7, EEA1, EFCAB4B, EID3, EIF4B, ELK3, EMG1, EP400, ERBB3, ERGIC2, ESPL1, ETNK1, FAM186A, FAM186B, FAM71C, FAM90A1, FAR2, FBXW8, FGF6, FOXM1, FOXN4, GALNT4, GALNT6, GALNT8, GALNT9, GAPDH, GAS2L3, GATC, GCN1L1, GLI1, GLIPR1, GNB3, GNPTAB, GOLGA3, GPD1, GPR133, GPR162, GPR19, GPRC5D, GRIN2B, GRIP1, GTF2H3, GUCY2C, GXYLT1, GYS2, H1FNT, HAL, HCAR2, HCAR3, HDAC7, HELB, HIGD1C, HIP1R, HNF1A, HOXC11, HOXC9, HPD, IFLTD1, IFT81, IPO8, IQSEC3, IRAK3, ISCU, ITGA5, ITGA7, ITPR2, KANSL2, KCNA1, KCNA5, KCNA6, KCNH3, KDM5A, KIAA1033, KIAA1467, KIF21A, KLHL42, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KNTC1, KRAS, KRR1, KRT1, KRT2, KRT3, KRT5, KRT6C, KRT7, KRT71, KRT72, KRT74, KRT76, KRT77, KRT78, KRT79, KRT8, KRT81, KRT82, KRT83, KRT84, KRT86, KSR2, LAG3, LDHB, LEPREL2, LETMD1, LGR5, LRMP, LRP1, LRP6, LRRC43, LRRK2, LTBR, LYZ, MANSC1, MANSC4, MARCH9, MBD6, MCRS1, MDM1, MED21, METTL25, MFSD5, MLXIP, MMP17, MMP19, MON2, MPHOSPH9, MUCL1, MYBPC1, NANOG, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCOR2, NDUFA9, NOS1, NR4A1, NT5DC3, NTF3, NTN4, NXPH4, OAS1, OAS2, OAS3, OASL, OR10P1, OR6C1, OR6C2, OR6C3, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C76, OR8S1, ORAI1, OS9, OTOGL, OVCH1, P2RX2, P2RX7, PAN2, PARPBP, PAWR, PDE1B, PDE3A, PFKM, PHC1, PHLDA1, PIP4K2C, PITPNM2, PIWIL1, PLA2G1B, PLBD1, PLBD2, PLEKHG6, PLEKHG7, PLXNC1, PMEL, POLE, POLR3B, POP5, PPFIBP1, PPP1R1A, PPTC7, PRB3, PRB4, PRH2, PRICKLE1, PRPF40B, PRR4, PSMD9, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PXN, PZP, RAB21, RAPGEF3, RARG, RASAL1, RASSF3, RBM19, RBMS2, RBP5, RDH16, REP15, RHNO1, RILPL1, RIMBP2, RIMKLB, RND1, RNFT2, RPH3A, SART3, SBNO1, SCN8A, SCNN1A, SCYL2, SETD1B, SFSWAP, SH2B3, SHMT2, SLC11A2, SLC15A4, SLC15A5, SLC17A8, SLC26A10, SLC2A3, SLC38A2, SLC38A4, SLC5A8, SLC6A12, SLC6A15, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SP7, SPRYD3, SPRYD4, SRGAP1, SRRM4, SSH1, SSPN, ST8SIA1, STAB2, STK38L, STX2, STYK1, SUOX, SYT1, SYT10, TAOK3, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R31, TAS2R42, TAS2R43, TAS2R50, TAS2R8, TAS2R9, TBC1D30, TBK1, TCP11L2, TCTN2, TEAD4, TENC1, TESPA1, TIMELESS, TMBIM6, TMCC3, TMED2, TMEM119, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM233, TMPRSS12, TMTC1, TMTC3, TNFRSF1A, TPH2, TRPV4, TSPAN11, TSPAN8, TULP3, TXNRD1, UBC, ULK1, USP15, USP30, USP44, USP5, UTP20, VDR, VEZT, VSIG10, VWF, WDR66, WIBG, WIF1, WNK1, WSB2, YAF2, ZFC3H1, ZNF10, ZNF268, ZNF641,

+ Genes associated with diseases 105

Genes at Omim

A2M, A2ML1, AAAS, ABCC9, ACADS, ACVRL1, ADCY6, AICDA, ALG10B, AQP2, ATN1, ATP2A2, BHLHE41, C12orf4, C1R, CACNA1C, CACNA2D4, CCND2, CD27, CD4, CDKN1B, CEP290, CIT, CLEC1A, CNTN1, COL2A1, CRY1, CUX2, DDX11, DIP2B, DUSP6, EMG1, ERBB3, GLI1, GNB3, GNPTAB, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, IFT81, IRAK3, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KIF21A, KRAS, KRT1, KRT2, KRT3, KRT5, KRT6C, KRT71, KRT74, KRT8, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, LYZ, MMP19, MYBPC1, NCAPD2, NDUFA9, ORAI1, OTOGL, P2RX2, PDE3A, PFKM, PHC1, POLE, POLR3B, PRICKLE1, PTPRO, PTPRQ, SCN8A, SCNN1A, SH2B3, SLC11A2, SLC17A8, SLCO1B1, SLCO1B3, SP7, SRGAP1, SUOX, SYT1, TBK1, TCTN2, TMTC3, TNFRSF1A, TPH2, TRPV4, VDR, VWF, WDR66, WNK1,
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)
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)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATP2A2 Darier disease, 124200 (3)
Acrokeratosis verruciformis, 101900 (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)
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)
CD27 Lymphoproliferative syndrome 2, 615122 (3)
CD4 OKT4 epitope deficiency, 613949 (3)
CDKN1B Multiple endocrine neoplasia, type IV, 610755 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLEC1A {Aspergillosis, susceptibility to}, 614079 (3)
CNTN1 ?Myopathy, congenital, Compton-North, 612540 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
CRY1 {Delayed sleep phase disorder, susceptibility to}, 614163 (3)
CUX2 Epileptic encephalopathy, early infantile, 67, 618141 (3)
DDX11 Warsaw breakage syndrome, 613398 (3)
DIP2B Mental retardation, FRA12A type, 136630 (3)
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)
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)
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)
IFT81 Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (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)
KIF21A Fibrosis of extraocular muscles, congenital, 1, 135700 (3)
Fibrosis of extraocular muscles, congenital, 3B, 135700 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
KRT1 Ichthyosis histrix, Curth-Macklin type, 146590 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
Keratosis palmoplantaris striata III, 607654 (3)
Palmoplantar keratoderma, epidermolytic, 144200 (3)
Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)
KRT5 Dowling-Degos disease 1, 179850 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Epidermolysis bullosa simplex-MCR, 609352 (3)
Epidermolysis bullosa simplex-MP, 131960 (3)
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)
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)
LYZ Amyloidosis, renal, 105200 (3)
MMP19 Cavitary optic disc anomalies, 611543 (3)
MYBPC1 Arthrogryposis, distal, type 1B, 614335 (3)
Lethal congenital contracture syndrome 4, 614915 (3)
NCAPD2 ?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NDUFA9 Mitochondrial complex I deficiency, nuclear type 26, 618247 (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)
PDE3A Hypertension and brachydactyly syndrome, 112410 (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)
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)
SCNN1A Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)
?Liddle syndrome 3, 618126 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SH2B3 Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
SLC11A2 Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)
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)
TCTN2 Joubert syndrome 24, 616654 (3)
?Meckel syndrome 8, 613885 (3)
TMTC3 Lissencephaly 8, 617255 (3)
TNFRSF1A {Multiple sclerosis, susceptibility to, 5}, 614810 (3)
Periodic fever, familial, 142680 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
TRPV4 Brachyolmia type 3, 113500 (3)
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
Digital arthropathy-brachydactyly, familial, 606835 (3)
Metatropic dysplasia, 156530 (3)
Parastremmatic dwarfism, 168400 (3)
?Avascular necrosis of femoral head, primary, 2, 617383 (3)
SED, Maroteaux type, 184095 (3)
Scapuloperoneal spinal muscular atrophy, 181405 (3)
Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
[Sodium serum level QTL 1], 613508 (3)
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)

Genes at Clinical Genomics Database

A2M, AAAS, ABCC9, ACADS, ACVRL1, ADCY6, AICDA, AQP2, ATN1, ATP2A2, BHLHE41, CACNA1C, CACNA2D4, CCND2, CD27, CD4, CDKN1B, CEP290, CNTN1, COL2A1, DDX11, DIP2B, DUSP6, EMG1, ERBB3, GNPTAB, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KIAA1033, KIF21A, KRAS, KRT1, KRT2, KRT3, KRT5, KRT6C, KRT71, KRT74, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, LYZ, MMP19, MYBPC1, NDUFA9, ORAI1, OTOGL, P2RX2, PDE3A, PFKM, PHC1, POLE, POLR3B, PRICKLE1, PTPRO, PTPRQ, SART3, SCN8A, SCNN1A, SLC11A2, SLC17A8, SLCO1B1, SLCO1B3, SP7, SUOX, TBK1, TCTN2, TNFRSF1A, TRPV4, VDR, VWF, WNK1,
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
ACVRL1 Hereditary hemorrhagic telangiectasia, type 2
ADCY6 Lethal congenital contracture syndrome 8
AICDA Immunodeficiency with hyper-IgM, type 2
AQP2 Diabetes insipidus, nephrogenic, autosomal
ATN1 Dentatorubro-pallidoluysian atrophy
ATP2A2 Darier-White disease
Acrokeratosis verruciformis (Hopf disease)
BHLHE41 Short sleeper
CACNA1C Brugada syndrome 3
Timothy syndrome
CACNA2D4 Retinal cone dystrophy 4
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CD27 Lymphoproliferative syndrome 2
CD4 OKT4 epitope deficiency
CDKN1B Multiple endocrine neoplasia, type IV
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
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
DUSP6 Hypogonadotropic hypogonadism 19, with or without anosmia
EMG1 Bowen-Conradi syndrome
ERBB3 Lethal congenital contractural syndrome 2
GNPTAB Mucolipidosis III alpha/beta (Pseudo-Hurler polydstrophy)
Mucolipidosis II alpha/beta (I-cell disease)
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
KIAA1033 Mental retardation, autosomal recessive 43
KIF21A Fibrosis of extraocular muscles, congenital 1
Fibrosis of extraocular muscles, congenital 3B
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
KRT1 Keratosis palmoplantaris striata III
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Ichthyosis histrix, Curth-Macklin type
Palmoplantar keratoderma, epidermolytic
Palmoplantar keratoderma, nonepidermolytic
Epidermolytic hyperkeratosis
KRT2 Ichthyosis bullosa of Siemens
Ichthyosis exfoliativa
KRT3 Meesmann corneal dystrophy
KRT5 Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with mottled pigmentation
Dowling-Degos disease 1
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
KRT71 Hypotrichosis 13
KRT74 Ectodermal dysplasia 7, hair/nail type
Hypotrichosis 3
Woolly hair, autosomal dominant
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
LYZ Amyloidosis, systemic nonneuropathic
MMP19 Cavitary optic disc anomalies
MYBPC1 Arthrogryposis, distal, type 1B
Lethal congenital contractural syndrome 4
NDUFA9 Mitochondrial complex I deficiency
Leigh syndrome
ORAI1 Immunodeficiency 9
OTOGL Deafness, autosomal recessive 84B
P2RX2 Deafness, autosomal dominant 41
PDE3A Hypertension with brachydactyly
PFKM Glycogen storage disease VII
PHC1 Primary microcephaly 11
POLE Colorectal cancer, susceptibility to, 12
Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
PRICKLE1 Epilepsy, progressive myoclonic, 1B
PTPRO Nephrotic syndrome, type 6
PTPRQ Deafness, autosomal recessive 84
SART3 Porokeratosis, disseminated superficial actinic, 1
SCN8A Cognitive impairment with or without cerebellar ataxia
Epileptic encephalopathy, early infantile, 13
SCNN1A Pseudohypoaldosteronism, type I
Bronchiectasis with or without elevated sweat chloride 2
SLC11A2 Anemia, hypochromic microcytic, with iron overload
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
TCTN2 Joubert syndrome 24
Meckel syndrome 8
TNFRSF1A Periodic fever, familial (TNF receptor-associated periodic syndrome)
TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive
Brachyolmia type 3
Metatropic dysplasia
Spondyloepiphyseal dysplasia, Maroteaux type
Scapuloperoneal spinal muscular atrophy
Hereditary motor and sensory neuropathy, type Iic
Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Digital arthropathy-brachydactyly, familial
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

Genes at HGMD

Summary

Number of Variants: 1870
Number of Genes: 448

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 031_tsvc_variants 12 rs669
dbSNP Clinvar 		9232268 704.529 T C PASS 0/1 273 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%
View 031_tsvc_variants 12 rs226405
dbSNP Clinvar 		9248233 734.836 T C PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.99780 0.99780 0.00235 0.91 0.00 None None None None None None A2M|0.10920489|49.36%

A2ML1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs7308106
dbSNP Clinvar 		8995756 115.265 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.03734 0.03734 0.07673 None None None None None None A2ML1|0.011663794|79.48%
View 031_tsvc_variants 12 rs11612600
dbSNP Clinvar 		9010671 217.503 G A PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.25439 0.25440 0.30652 None None None None None None A2ML1|0.011663794|79.48%
View 031_tsvc_variants 12 rs1476910
dbSNP Clinvar 		9020912 431.885 A G PASS 0/1 213 SYNONYMOUS_CODING LOW None 0.67772 0.67770 0.25352 None None None None None None A2ML1|0.011663794|79.48%
View 031_tsvc_variants 12 rs1860967
dbSNP Clinvar 		9013755 193.919 C T PASS 0/1 92 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 031_tsvc_variants 12 rs10219561
dbSNP Clinvar 		9016573 1518.32 A G PASS 1/1 158 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 031_tsvc_variants 12 rs1558526
dbSNP Clinvar 		9009820 185.415 G A PASS 0/1 88 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 031_tsvc_variants 12 rs1860927
dbSNP Clinvar 		9004512 3841.6 G A PASS 1/1 424 SYNONYMOUS_CODING LOW None 0.86821 0.86820 0.19218 None None None None None None A2ML1|0.011663794|79.48%
View 031_tsvc_variants 12 rs7308811
dbSNP Clinvar 		9020489 497.838 A G PASS 1/1 53 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 031_tsvc_variants 12 rs1860926
dbSNP Clinvar 		9004892 2734.53 C A PASS 1/1 285 NON_SYNONYMOUS_CODING MODERATE None 0.96605 0.96610 0.03530 1.00 0.00 None None None None None None A2ML1|0.011663794|79.48%

AAAS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs1546808
dbSNP Clinvar 		53703021 2146.37 G A PASS 1/1 237 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
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 031_tsvc_variants 12 rs10770865
dbSNP Clinvar 		22063115 942.482 A G PASS 1/1 102 SYNONYMOUS_CODING LOW None 0.99720 0.99720 0.00354 None None None None None None ABCC9|0.261420458|30.64%

AC026310.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs74528004
dbSNP Clinvar 		25055943 314.264 G A PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.01298 0.01298 None None None None None None BCAT1|0.134347415|45.22%

ACACB
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 031_tsvc_variants 12 rs11065772
dbSNP Clinvar 		109617865 1451.65 T C PASS 1/1 154 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%
View 031_tsvc_variants 12 rs2878960
dbSNP Clinvar 		109577735 1779.68 C T PASS 1/1 188 SYNONYMOUS_CODING LOW None 0.39776 0.39780 0.45448 None None None None None None ACACB|0.108212697|49.54%
View 031_tsvc_variants 12 rs7135947
dbSNP Clinvar 		109629457 460.027 C T PASS 0/1 161 SYNONYMOUS_CODING LOW None 0.38139 0.38140 0.44503 None None None None None None ACACB|0.108212697|49.54%
View 031_tsvc_variants 12 rs2241220
dbSNP Clinvar 		109675029 949.358 T C PASS 0/1 523 SYNONYMOUS_CODING LOW None 0.77915 0.77920 0.19699 None None None None None None ACACB|0.108212697|49.54%
View 031_tsvc_variants 12 rs2075260
dbSNP Clinvar 		109696838 161.592 G A PASS 1/1 19 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 031_tsvc_variants 12 rs3742023
dbSNP Clinvar 		109693982 1131.89 C T PASS 1/1 124 SYNONYMOUS_CODING LOW None 0.25519 0.25520 0.28933 None None None None None None ACACB|0.108212697|49.54%

ACADS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs3914
dbSNP Clinvar 		121174899 1221.73 T C PASS 1/1 128 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%
View 031_tsvc_variants 12 rs3915
dbSNP Clinvar 		121176679 1698.42 C T PASS 1/1 182 SYNONYMOUS_CODING LOW None 0.67312 0.67310 0.40804 None None None None None None ACADS|0.070436549|57.39%

ACSM4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs7968241
dbSNP Clinvar 		7463241 1161.0 A T PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.32308 0.32310 0.43174 None None None None None None ACSM4|0.022577905|72.89%

ACVRL1
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 031_tsvc_variants 12 rs2277382
dbSNP Clinvar 		52306221 353.683 C T PASS 0/1 150 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
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 031_tsvc_variants 12 rs11182088
dbSNP Clinvar 		43860526 503.915 A G PASS 0/1 194 SYNONYMOUS_CODING LOW None 0.43171 0.43170 0.31244 None None None None None None ADAMTS20|0.033294654|68.04%

ADCY6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs2453486
dbSNP Clinvar 		49177113 101.909 T G PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.29213 0.29210 0.26965 None None None None None None ADCY6|0.441849668|18.58%

AGAP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs17852479
dbSNP Clinvar 		58126234 2687.68 C A PASS 1/1 282 SYNONYMOUS_CODING LOW None 0.21566 0.21570 0.31812 None None None None None None AGAP2|0.196777896|37.07%

AICDA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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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 031_tsvc_variants 12 rs2028373
dbSNP Clinvar 		8757481 291.694 G A PASS 1/1 35 SYNONYMOUS_CODING LOW None 0.48423 0.48420 0.45065 None None None None None None AICDA|0.345530644|24.45%

AKAP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs1990313
dbSNP Clinvar 		4736086 252.28 A G PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.17871 0.17870 0.08212 0.02 0.06 None None None None None None AKAP3|0.022604217|72.88%
View 031_tsvc_variants 12 rs1990312
dbSNP Clinvar 		4736495 1373.97 C T PASS 1/1 143 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 031_tsvc_variants 12 rs7960207
dbSNP Clinvar 		4737318 349.675 A G PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.81749 0.81750 0.12133 None None None None None None AKAP3|0.022604217|72.88%
View 031_tsvc_variants 12 rs2072357
dbSNP Clinvar 		4735894 484.721 G A PASS 0/1 220 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 031_tsvc_variants 12 rs2072359
dbSNP Clinvar 		4735734 271.154 T C PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.14816 0.14820 0.08073 None None None None None None AKAP3|0.022604217|72.88%
View 031_tsvc_variants 12 rs2072358
dbSNP Clinvar 		4735737 134.043 A G PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.26418 0.26420 0.24789 None None None None None None AKAP3|0.022604217|72.88%
View 031_tsvc_variants 12 rs11063265
dbSNP Clinvar 		4736631 2015.66 A G PASS 1/1 209 SYNONYMOUS_CODING LOW None 0.98283 0.98280 0.02314 None None None None None None AKAP3|0.022604217|72.88%
View 031_tsvc_variants 12 rs11063266
dbSNP Clinvar 		4736677 676.726 G C PASS 1/1 74 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 031_tsvc_variants 12 rs10774251
dbSNP Clinvar 		4736690 723.745 A G PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.97264 0.97260 0.03283 None None None None None None AKAP3|0.022604217|72.88%
View 031_tsvc_variants 12 rs2072355
dbSNP Clinvar 		4737715 262.321 C T PASS 0/1 129 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 031_tsvc_variants 12 rs2072356
dbSNP Clinvar 		4737459 325.067 C T PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.70727 0.70730 0.26196 None None None None None None AKAP3|0.022604217|72.88%

ALDH1L2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs11112330
dbSNP Clinvar 		105434467 281.996 C T PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.30491 0.30490 0.31040 None None None None None None C12orf45|0.009401339|81.38%,ALDH1L2|0.155583388|42.19%
View 031_tsvc_variants 12 rs4964317
dbSNP Clinvar 		105433523 238.112 T A PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.31050 0.31050 0.31808 None None None None None None C12orf45|0.009401339|81.38%,ALDH1L2|0.155583388|42.19%

ALG10B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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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 031_tsvc_variants 12 rs6582584
dbSNP Clinvar 		38712142 1028.15 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 031_tsvc_variants 12 rs35518352
dbSNP Clinvar 		38715000 266.786 A G PASS 0/1 164 SYNONYMOUS_CODING LOW None 0.25140 0.25140 0.35336 None None None None None None ALG10B|0.041656471|65.23%

ALKBH2
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 031_tsvc_variants 12 rs139644396
dbSNP Clinvar 		109527872 268.318 T C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00938 0.00939 0.01861 0.71 0.00 None None None None None None ALKBH2|0.007056546|83.44%

AMDHD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs7955450
dbSNP Clinvar 		96337183 327.644 A G PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.71845 0.71850 0.56 0.00 None None None None None None AMDHD1|0.4419198|18.57%
View 031_tsvc_variants 12 rs1982138
dbSNP Clinvar 		96346594 58.5937 T C PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.25459 0.25460 0.20231 None None None None None None AMDHD1|0.4419198|18.57%
View 031_tsvc_variants 12 rs1436121
dbSNP Clinvar 		96337225 31.0738 C T PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.25479 0.25480 0.14615 None None None None None None AMDHD1|0.4419198|18.57%

AMIGO2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs2269828
dbSNP Clinvar 		47471439 2359.84 G A PASS 1/1 255 SYNONYMOUS_CODING LOW None 0.22165 0.22160 0.27249 None None None None None None AMIGO2|0.036937245|66.81%

ANHX
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs144454089
dbSNP Clinvar 		133795885 291.891 G A PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.48343 0.48340 0.03 0.02 None None None None None None ANHX|0.002701855|89.23%

ANKRD33
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs7303030
dbSNP Clinvar 		52284483 425.085 A G PASS 0/1 209 SYNONYMOUS_CODING LOW None 0.10503 0.10500 0.17246 None None None None None None ANKRD33|0.021337609|73.52%
View 031_tsvc_variants 12 rs34494292
dbSNP Clinvar 		52284500 430.318 A G PASS 0/1 209 NON_SYNONYMOUS_CODING MODERATE None 0.14896 0.14900 0.15601 0.15 0.00 None None None None None None ANKRD33|0.021337609|73.52%
View 031_tsvc_variants 12 rs697636
dbSNP Clinvar 		52282873 196.798 A T PASS 0/1 83 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 031_tsvc_variants 12 rs697634
dbSNP Clinvar 		52282060 320.591 C T PASS 0/1 195 SYNONYMOUS_CODING LOW None 0.33167 0.33170 0.25811 None None None None None None ANKRD33|0.021337609|73.52%
View 031_tsvc_variants 12 rs3180417
dbSNP Clinvar 		52285086 309.185 G A PASS 0/1 211 SYNONYMOUS_CODING LOW None 0.14697 0.14700 0.15570 None None None None None None ANKRD33|0.021337609|73.52%

ANKRD52
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs1274490
dbSNP Clinvar 		56649601 760.764 A G PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.80631 0.80630 0.20515 None None None None None None ANKRD52|0.243975122|32.09%
View 031_tsvc_variants 12 rs808919
dbSNP Clinvar 		56647911 1903.24 G C PASS 1/1 202 SYNONYMOUS_CODING LOW None 0.80471 0.80470 0.20446 None None None None None None ANKRD52|0.243975122|32.09%

ANO2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 031_tsvc_variants 12 rs2277398
dbSNP Clinvar 		5674754 266.053 G A PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.34225 0.34230 0.39520 None None None None None None ANO2|0.232649133|33.14%
View 031_tsvc_variants 12 . 5685167 281.936 C T PASS 0/1 141 SYNONYMOUS_CODING LOW None None None None None None None ANO2|0.232649133|33.14%

APOBEC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs2302515
dbSNP Clinvar 		7805236 3825.42 C G PASS 1/1 402 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
 RsId
 Pos
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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 031_tsvc_variants 12 rs34775780
dbSNP Clinvar 		105589122 225.673 G A PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.00599 0.00599 0.01238 None None None None None None APPL2|0.118101014|47.72%
View 031_tsvc_variants 12 rs935241
dbSNP Clinvar 		105568122 1350.15 G A PASS 1/1 142 SYNONYMOUS_CODING LOW None 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%
View 031_tsvc_variants 12 rs935240
dbSNP Clinvar 		105568176 1264.91 G A PASS 1/1 135 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
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs426496
dbSNP Clinvar 		50348078 1807.09 T C PASS 1/1 188 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%
View 031_tsvc_variants 12 rs61733029
dbSNP Clinvar 		50344652 195.124 G A PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00500 None None None None None None AQP2|0.155383896|42.24%

ARF3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 031_tsvc_variants 12 rs12122
dbSNP Clinvar 		49334762 3407.64 G C PASS 1/1 353 SYNONYMOUS_CODING LOW None 0.92312 0.92310 0.09227 None None None None None None ARF3|0.720861562|7.96%

ARHGDIB
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 031_tsvc_variants 12 rs2430711
dbSNP Clinvar 		15103605 1498.46 A G PASS 1/1 162 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00008 None None None None None None ARHGDIB|0.131635037|45.66%

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 031_tsvc_variants 12 rs653576
dbSNP Clinvar 		50452708 1214.53 C G PASS 1/1 133 SYNONYMOUS_CODING LOW None 0.92752 0.92750 0.03721 None None None None None None ASIC1|0.372226278|22.59%

ASUN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs3210635
dbSNP Clinvar 		27064232 1000.76 C T PASS 1/1 105 SYNONYMOUS_CODING LOW None 0.57927 0.57930 0.48731 None None None None None None ASUN|0.615904164|11.26%

ATF7
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 031_tsvc_variants 12 rs139241958
dbSNP Clinvar 		53925573 390.902 C T PASS 0/1 204 SYNONYMOUS_CODING LOW None 0.00539 0.00539 0.01168 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 031_tsvc_variants 12 rs2231909
dbSNP Clinvar 		14577892 18.3948 A T PASS 0/1 35 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
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs7969685
dbSNP Clinvar 		7047143 911.322 C A PASS 0/1 669 SYNONYMOUS_CODING LOW None 0.16254 0.16250 0.26462 None None None None None None ATN1|0.702926343|8.41%

ATP2A2
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 031_tsvc_variants 12 rs56243033
dbSNP Clinvar 		110780107 250.142 G A PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.02436 0.02436 0.04959 None None None None None None ATP2A2|0.319412756|26.18%

ATXN7L3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs590352
dbSNP Clinvar 		74932159 1903.35 G C PASS 1/1 198 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
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs2172521
dbSNP Clinvar 		58204283 772.874 T C PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.32 0.00 None None None None None None AVIL|0.110773027|49.04%

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 031_tsvc_variants 12 rs4758675
dbSNP Clinvar 		122691738 2802.13 C A PASS 1/1 299 SYNONYMOUS_CODING LOW None 0.99361 0.99360 0.00738 None None None None None None B3GNT4|0.02304241|72.69%
View 031_tsvc_variants 12 rs7136356
dbSNP Clinvar 		122689181 853.082 C G PASS 1/1 88 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%

B4GALNT3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs73592377
dbSNP Clinvar 		658993 229.165 C T PASS 0/1 134 SYNONYMOUS_CODING LOW None 0.08187 0.08187 0.08196 None None None None None None B4GALNT3|0.028265322|70.31%
View 031_tsvc_variants 12 rs7298766
dbSNP Clinvar 		661656 150.589 A G PASS 0/1 84 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 031_tsvc_variants 12 rs758790
dbSNP Clinvar 		662448 208.265 T C PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.84724 0.84720 0.26572 None None None None None None B4GALNT3|0.028265322|70.31%
View 031_tsvc_variants 12 rs1056008
dbSNP Clinvar 		662838 76.809 T C PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.28435 0.28430 0.30123 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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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 031_tsvc_variants 12 rs73053321
dbSNP Clinvar 		12247836 305.061 C T PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.00879 0.00879 0.01838 0.00 0.92 None None None None None None BCL2L14|0.005004666|85.81%

BEST3
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 031_tsvc_variants 12 rs775429
dbSNP Clinvar 		70091432 471.975 T C PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.97324 0.97320 0.02361 None None None None None None BEST3|0.093001289|52.62%

BHLHE41
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 031_tsvc_variants 12 rs61754129
dbSNP Clinvar 		26275827 56.7026 C G PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.00280 0.00280 0.00317 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 031_tsvc_variants 12 rs34447944
dbSNP Clinvar 		32481369 504.502 C T PASS 0/1 329 SYNONYMOUS_CODING LOW None 0.04633 0.04633 0.06228 None None None None None None BICD1|0.069048609|57.71%
View 031_tsvc_variants 12 rs3748275
dbSNP Clinvar 		32481093 409.333 G C PASS 0/1 215 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 031_tsvc_variants 12 rs3210837
dbSNP Clinvar 		51685831 129.003 T C PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.78115 0.78120 0.22928 None None None None None None BIN2|0.023359336|72.5%
View 031_tsvc_variants 12 rs7954976
dbSNP Clinvar 		51681903 1062.13 T C PASS 1/1 110 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 031_tsvc_variants 12 rs12303478
dbSNP Clinvar 		108051406 262.558 G A PASS 0/1 166 NON_SYNONYMOUS_CODING MODERATE None 0.10483 0.10480 0.11756 0.16 0.01 None None None None None None BTBD11|0.286570373|28.6%
View 031_tsvc_variants 12 rs9919712
dbSNP Clinvar 		108035903 68.0954 T C PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.19569 0.19570 0.23566 None None None None None None BTBD11|0.286570373|28.6%

C12orf10
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 031_tsvc_variants 12 rs711316
dbSNP Clinvar 		53700860 2130.67 A G PASS 1/1 226 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.06020 0.37 0.00 None None None None None None C12orf10|0.308047855|26.99%
View 031_tsvc_variants 12 rs1534284
dbSNP Clinvar 		53693532 660.194 A G PASS 1/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.05984 1.00 0.00 None None None None None None C12orf10|0.308047855|26.99%
View 031_tsvc_variants 12 rs1534283
dbSNP Clinvar 		53693533 661.406 A C PASS 1/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.06006 0.21 0.00 None None None None None None C12orf10|0.308047855|26.99%
View 031_tsvc_variants 12 rs1534282
dbSNP Clinvar 		53700848 2152.49 C T PASS 1/1 227 NON_SYNONYMOUS_CODING MODERATE None 0.96885 0.96880 0.03522 1.00 0.00 None None None None None None C12orf10|0.308047855|26.99%

C12orf29
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 031_tsvc_variants 12 rs9262
dbSNP Clinvar 		88440676 227.881 G C PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.51058 0.51060 0.46917 1.00 0.00 None None None None None None C12orf29|0.429935486|19.14%

C12orf4
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 031_tsvc_variants 12 rs35924298
dbSNP Clinvar 		4627414 246.288 C T PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.04752 0.04752 0.08481 None None None None None None C12orf4|0.138164494|44.67%

C12orf42
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 031_tsvc_variants 12 rs117838745
dbSNP Clinvar 		103795425 247.639 C T PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.00359 0.00359 0.01569 0.04 0.09 None None None None None None C12orf42|0.002743176|89.17%
View 031_tsvc_variants 12 rs10778257
dbSNP Clinvar 		103872172 145.7 T G PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.42020 0.35 0.07 None None None None None None C12orf42|0.002743176|89.17%

C12orf43
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 031_tsvc_variants 12 rs11537856
dbSNP Clinvar 		121442883 76.025 G A PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.03395 0.03395 0.03647 None None None None None None C12orf43|0.005778578|84.86%
View 031_tsvc_variants 12 rs11537857
dbSNP Clinvar 		121454148 532.995 C T PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.03395 0.03395 0.04044 0.26 0.01 None None None None None None C12orf43|0.005778578|84.86%
View 031_tsvc_variants 12 rs2258227
dbSNP Clinvar 		121454257 1612.25 T A PASS 1/1 170 START_GAINED LOW None 0.78474 0.78470 0.25142 None None None None None None C12orf43|0.005778578|84.86%