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+ Genes 541

Genes:
A2M, A2ML1, AAAS, AACS, ABCC9, AC068987.1, ACACB, ACADS, ACSM4, ACVRL1, ADAMTS20, AGAP2, AICDA, AKAP3, ALDH1L2, ALG10B, AMIGO2, ANHX, ANKLE2, ANKRD13A, ANKRD33, ANKRD52, ANKS1B, ANO2, APOBEC1, APPL2, AQP2, AQP5, ARF3, ARHGAP9, ARHGDIB, ASCL1, ASIC1, ASUN, ATF1, ATN1, ATP2A2, ATP5G2, ATP6V0A2, ATXN2, AVIL, AVPR1A, B3GNT4, B4GALNT3, BAZ2A, BCL2L14, BCL7A, BEST3, BHLHE41, BIN2, BRI3BP, BTBD11, C12orf10, C12orf29, C12orf36, C12orf4, C12orf42, C12orf43, C12orf5, C12orf54, C12orf55, C12orf56, C12orf66, C12orf68, C12orf76, C12orf77, C1QL4, C1RL, C1S, C2CD5, CABP1, CACNA1C, CACNA2D4, CACNB3, CAMKK2, CAND1, CAPRIN2, CAPS2, CASC1, CCDC38, CCDC41, CCDC53, CCDC60, CCDC65, CCDC77, CCDC91, CCDC92, CCER1, CCND2, CCNT1, CCT2, CD163, CD163L1, CD27, CD4, CELA1, CEP290, CERS5, CHD4, CHFR, CHPT1, CIT, CKAP4, CLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC9A, CLECL1, CLIP1, CLLU1, CMKLR1, CNOT2, COL2A1, COPS7A, COQ5, CPM, CPNE8, CPSF6, CRY1, CSRP2, CTD-2021H9.3, CTD-2140B24.4, CTDSP2, CUX2, DAZAP2, DBX2, DCP1B, DDX11, DDX23, DDX47, DDX51, DDX55, DENND5B, DEPDC4, DGKA, DHX37, DIP2B, DNAH10, DNAH10OS, DPY19L2, DTX1, DUSP6, DYRK2, DYRK4, E2F7, EEA1, EFCAB4B, EIF2S3L, EIF4B, ELK3, EMG1, EP400, EP400NL, ERBB3, ERC1, ERP27, ESPL1, ETV6, FAM186A, FAM186B, FAM222A, FAM90A1, FAR2, FBRSL1, FBXW8, FGD4, FGD6, FGF6, FMNL3, FOXM1, FOXN4, GALNT4, GALNT8, GALNT9, GAPDH, GAS2L3, GCN1L1, GLI1, GLT1D1, GNB3, GNPTAB, GNS, GOLGA3, GPD1, GPN3, GPR133, GPR162, GPR19, GPRC5A, GRIN2B, GRIP1, GTF2H3, GUCY2C, GXYLT1, GYS2, H1FNT, HAL, HCAR3, HDAC7, HELB, HIP1R, HNF1A, HOXC10, HOXC11, HOXC4, HOXC9, HPD, HVCN1, IFLTD1, IPO8, IQSEC3, IRAK3, IRAK4, ISCU, ITGA5, ITGA7, ITPR2, KANSL2, KCNA1, KCNA5, KCNA6, KCNH3, KDM2B, KDM5A, KERA, KIAA1033, KIAA1467, KIAA1551, KIF21A, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRF2, 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, KRT82, KRT83, KRT84, KRT86, KSR2, LAG3, LDHB, LEPREL2, LGR5, LPCAT3, LRIG3, LRMP, LRP1, LRP6, LRRC23, LRRC43, LRRK2, LTBR, M6PR, MAGOHB, MANSC1, MANSC4, MAPKAPK5, MARCH9, MBD6, MED13L, MED21, METAP2, METTL25, MFSD5, MGAT4C, MLXIP, MMAB, MMP17, MMP19, MON2, MPHOSPH9, MUC19, MUCL1, MVK, MYBPC1, MYO1H, MYRFL, NACA, NANOG, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCKAP5L, NCOR2, NDUFA9, NOS1, NRIP2, NTF3, NTN4, NUAK1, NUP37, NXPH4, OAS1, OAS2, OAS3, OASL, OGFOD2, OR10AD1, OR10P1, OR2AP1, OR6C1, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C74, OR6C76, OR8S1, OR9K2, ORAI1, OS9, OTOGL, OVCH1, P2RX2, P2RX4, P2RX7, PAH, PAN2, PARPBP, PAWR, PDE1B, PDE3A, PDZRN4, PFKM, PGAM5, PHB2, PHC1, PHLDA1, PIK3C2G, PIP4K2C, PITPNM2, PIWIL1, PLA2G1B, PLBD1, PLBD2, PLCZ1, PLEKHG6, PLEKHG7, PLXNC1, PMEL, POLE, POP5, PPFIBP1, PPHLN1, PPP1CC, PPP1R1A, PRB1, PRB2, PRB4, PRH1, PRH2, PRICKLE1, PRIM1, PRMT8, PRPH, PRR4, PSMD9, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PUS7L, PXMP2, PZP, RAD52, RAPGEF3, RASAL1, RASSF3, RBM19, RBMS2, RBP5, RDH5, RECQL, REP15, RHNO1, RILPL1, RIMBP2, RIMKLB, RND1, RNFT2, RP1-228P16.5, RP11-1105G2.3, RP11-181C3.1, SART3, SBNO1, SCARB1, SCN8A, SCNN1A, SDSL, SETD1B, SETD8, SFSWAP, SLC11A2, SLC15A4, SLC15A5, SLC16A7, SLC25A3, SLC26A10, SLC2A14, SLC2A3, SLC38A2, SLC38A4, SLC39A5, SLC5A8, SLC6A12, SLC8B1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SP7, SPRYD4, SRGAP1, SRRM4, SSH1, SSPN, ST8SIA1, STAB2, STAT2, STK38L, STX2, STYK1, SUOX, SYT1, SYT10, TAOK3, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R8, TAS2R9, TBC1D30, TCHP, TCP11L2, TCTN1, TCTN2, TENC1, TIMELESS, TMBIM6, TMCC3, TMED2, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM233, TMEM52B, TMPRSS12, TMTC1, TMTC3, TNFRSF1A, TRHDE, TROAP, TRPV4, TSPAN11, TSPAN8, TSPAN9, TUBA1A, TUBA1C, TULP3, TWF1, TXNRD1, UBC, UBE3B, UHRF1BP1L, ULK1, USP15, USP30, USP44, USP5, UTP20, VAMP1, VDR, VEZT, VSIG10, VWF, WDR66, WIBG, WIF1, WNK1, WNT10B, YEATS4, ZBTB39, ZC3H10, ZDHHC17, ZFC3H1, ZNF140, ZNF26, ZNF268, ZNF384, ZNF641, ZNF705A, ZNF84, ZNF891,

+ Genes associated with diseases 130

Genes at Omim

A2M, A2ML1, AAAS, ABCC9, ACADS, ACVRL1, AICDA, ALG10B, ANKLE2, AQP2, AQP5, ASCL1, ATN1, ATP2A2, ATP6V0A2, ATXN2, BCL7A, BHLHE41, C12orf4, C1S, CACNA1C, CACNA2D4, CCDC65, CCND2, CD27, CD4, CEP290, CHD4, CIT, CLEC1A, COL2A1, CRY1, CUX2, DDX11, DIP2B, DPY19L2, DUSP6, EMG1, ERBB3, ETV6, FGD4, GLI1, GNB3, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, IRAK3, IRAK4, 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, NDUFA9, NUP37, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, PLCZ1, POLE, PRICKLE1, PRPH, PTPRO, PTPRQ, RDH5, SCARB1, SCN8A, SCNN1A, SLC11A2, SLC25A3, SLC39A5, SLCO1B1, SLCO1B3, SP7, SRGAP1, STAT2, SUOX, SYT1, TCTN2, TMTC3, TNFRSF1A, TRPV4, TUBA1A, UBE3B, VAMP1, VDR, VWF, WDR66, WNK1, 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)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)
AICDA Immunodeficiency with hyper-IgM, type 2, 605258 (3)
ALG10B {Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3)
ANKLE2 ?Microcephaly 16, primary, autosomal recessive, 616681 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
AQP5 Palmoplantar keratoderma, Bothnian type, 600231 (3)
ASCL1 Haddad syndrome, 209880 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATP2A2 Darier disease, 124200 (3)
Acrokeratosis verruciformis, 101900 (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)
BCL7A B-cell non-Hodgkin lymphoma, high-grade (3)
BHLHE41 [Short sleeper], 612975 (3)
C12orf4 Mental retardation, autosomal recessive 66, 618221 (3)
C1S C1s deficiency, 613783 (3)
Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3)
CACNA1C Brugada syndrome 3, 611875 (3)
Timothy syndrome, 601005 (3)
CACNA2D4 Retinal cone dystrophy 4, 610478 (3)
CCDC65 Ciliary dyskinesia, primary, 27, 615504 (3)
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)
CD27 Lymphoproliferative syndrome 2, 615122 (3)
CD4 OKT4 epitope deficiency, 613949 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
CHD4 Sifrim-Hitz-Weiss syndrome, 617159 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLEC1A {Aspergillosis, susceptibility to}, 614079 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
CRY1 {Delayed sleep phase disorder, susceptibility to}, 614163 (3)
CUX2 Epileptic encephalopathy, early infantile, 67, 618141 (3)
DDX11 Warsaw breakage syndrome, 613398 (3)
DIP2B Mental retardation, FRA12A type, 136630 (3)
DPY19L2 Spermatogenic failure 9, 613958 (3)
DUSP6 Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
ERBB3 ?Lethal congenital contractural syndrome 2, 607598 (3)
{?Erythroleukemia, familial, susceptibility to}, 133180 (3)
ETV6 Leukemia, acute myeloid, somatic, 601626 (3)
Thrombocytopenia 5, 616216 (3)
FGD4 Charcot-Marie-Tooth disease, type 4H, 609311 (3)
GLI1 Polydactyly, postaxial, type A8, 618123 (3)
GNB3 {Hypertension, essential, susceptibility to}, 145500 (3)
Night blindness, congenital stationary, type 1H, 617024 (3)
GNPTAB Mucolipidosis II alpha/beta, 252500 (3)
Mucolipidosis III alpha/beta, 252600 (3)
GNS Mucopolysaccharidosis type IIID, 252940 (3)
GPD1 Hypertriglyceridemia, transient infantile, 614480 (3)
GRIN2B Epileptic encephalopathy, early infantile, 27, 616139 (3)
Mental retardation, autosomal dominant 6, 613970 (3)
GRIP1 Fraser syndrome 3, 617667 (3)
GUCY2C Diarrhea 6, 614616 (3)
Meconium ileus, 614665 (3)
GYS2 Glycogen storage disease 0, liver, 240600 (3)
HAL [Histidinemia], 235800 (3)
HNF1A Hepatic adenoma, somatic, 142330 (3)
Diabetes mellitus, insulin-dependent, 20, 612520 (3)
MODY, type III, 600496 (3)
Renal cell carcinoma, 144700 (3)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
HPD Hawkinsinuria, 140350 (3)
Tyrosinemia, type III, 276710 (3)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
IRAK4 IRAK4 deficiency, 607676 (3)
Invasive pneumococcal disease, recurrent isolated, 1, 610799 (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)
NDUFA9 Mitochondrial complex I deficiency, nuclear type 26, 618247 (3)
NUP37 ?Microcephaly 24, primary, autosomal recessive, 618179 (3)
ORAI1 Immunodeficiency 9, 612782 (3)
Myopathy, tubular aggregate, 2, 615883 (3)
OTOGL Deafness, autosomal recessive 84B, 614944 (3)
P2RX2 Deafness, autosomal dominant 41, 608224 (3)
PAH Phenylketonuria, 261600 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PDE3A Hypertension and brachydactyly syndrome, 112410 (3)
PFKM Glycogen storage disease VII, 232800 (3)
PHC1 ?Microcephaly 11, primary, autosomal recessive, 615414 (3)
PLCZ1 ?Spermatogenic failure 17, 617214 (3)
POLE IMAGE-I syndrome, 618336 (3)
FILS syndrome, 615139 (3)
{Colorectal cancer, susceptibility to, 12}, 615083 (3)
PRICKLE1 Epilepsy, progressive myoclonic 1B, 612437 (3)
PRPH {Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PTPRO Nephrotic syndrome, type 6, 614196 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
RDH5 Fundus albipunctatus, 136880 (3)
SCARB1 [High density lipoprotein cholesterol level QTL6], 610762 (3)
SCN8A Cognitive impairment with or without cerebellar ataxia, 614306 (3)
Epileptic encephalopathy, early infantile, 13, 614558 (3)
?Myoclonus, familial, 2, 618364 (3)
Seizures, benign familial infantile, 5, 617080 (3)
SCNN1A Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)
?Liddle syndrome 3, 618126 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SLC11A2 Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)
SLC25A3 Mitochondrial phosphate carrier deficiency, 610773 (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)
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)
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)
WNT10B Split-hand/foot malformation 6, 225300 (3)
Tooth agenesis, selective, 8, 617073 (3)

Genes at Clinical Genomics Database

A2M, AAAS, ABCC9, ACADS, ACVRL1, AICDA, ANKLE2, AQP2, ASCL1, ATN1, ATP2A2, ATP6V0A2, ATXN2, BHLHE41, C1S, CACNA1C, CACNA2D4, CCDC65, CCND2, CD27, CD4, CEP290, CHD4, COL2A1, DDX11, DIP2B, DPY19L2, DUSP6, EMG1, ERBB3, ETV6, FGD4, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, IRAK4, 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, NDUFA9, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, POLE, PRICKLE1, PTPRO, PTPRQ, RDH5, SART3, SCN8A, SCNN1A, SLC11A2, SLC25A3, SLC39A5, SLCO1B1, SLCO1B3, SP7, STAT2, SUOX, TCTN1, TCTN2, TNFRSF1A, TRPV4, TUBA1A, UBE3B, VAMP1, VDR, VWF, WNK1, WNT10B,
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
AICDA Immunodeficiency with hyper-IgM, type 2
ANKLE2 Microcephaly, primary autosomal recessive, 16
AQP2 Diabetes insipidus, nephrogenic, autosomal
ASCL1 Central hypoventilation syndrome, congenital (Haddad syndrome)
ATN1 Dentatorubro-pallidoluysian atrophy
ATP2A2 Darier-White disease
Acrokeratosis verruciformis (Hopf disease)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
ATXN2 Spinocerebellar ataxia 2
BHLHE41 Short sleeper
C1S Complement component C1s deficiency
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
CD4 OKT4 epitope deficiency
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CHD4 Schizophrenia
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
DPY19L2 Spermatogenic failure 9
Globozoospermia
DUSP6 Hypogonadotropic hypogonadism 19, with or without anosmia
EMG1 Bowen-Conradi syndrome
ERBB3 Lethal congenital contractural syndrome 2
ETV6 Thrombocytopenia 5
FGD4 Charcot-Marie-Tooth disease, type 4H
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
IRAK4 IRAK4 deficiency
Invasive pneumococcal disease, recurrent, isolated, 1
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
NDUFA9 Mitochondrial complex I deficiency
Leigh syndrome
ORAI1 Immunodeficiency 9
OTOGL Deafness, autosomal recessive 84B
P2RX2 Deafness, autosomal dominant 41
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
PDE3A Hypertension with brachydactyly
PFKM Glycogen storage disease VII
PHC1 Primary microcephaly 11
POLE Colorectal cancer, susceptibility to, 12
Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
PRICKLE1 Epilepsy, progressive myoclonic, 1B
PTPRO Nephrotic syndrome, type 6
PTPRQ Deafness, autosomal recessive 84
RDH5 Fundus albipunctatus
SART3 Porokeratosis, disseminated superficial actinic, 1
SCN8A Cognitive impairment with or without cerebellar ataxia
Epileptic encephalopathy, early infantile, 13
SCNN1A Pseudohypoaldosteronism, type I
Bronchiectasis with or without elevated sweat chloride 2
SLC11A2 Anemia, hypochromic microcytic, with iron overload
SLC25A3 Micochondrial phosphate carrier deficiency
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
TCTN1 Joubert syndrome 13
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
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
WNT10B Split-hand/foot malformation 6

Genes at HGMD

Summary

Number of Variants: 9152
Number of Genes: 541

Export to: CSV

A2M
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs669
dbSNP Clinvar 		9232268 1455.78 T C PASS 0/1 117 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 combined sample_41.variant5 12 rs226405
dbSNP Clinvar 		9248233 3124.49 T C PASS 1/1 118 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs1860927
dbSNP Clinvar 		9004512 4242.92 G A PASS 1/1 147 SYNONYMOUS_CODING LOW None 0.86821 0.86820 0.19218 None None None None None None A2ML1|0.011663794|79.48%
View combined sample_41.variant5 12 rs1860926
dbSNP Clinvar 		9004892 3943.41 C A PASS 1/1 133 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 combined sample_41.variant5 12 rs10219561
dbSNP Clinvar 		9016573 3922.15 A G PASS 1/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.96785 0.96790 0.03189 0.54 0.00 None None None None None None A2ML1|0.011663794|79.48%
View combined sample_41.variant5 12 rs1860967
dbSNP Clinvar 		9013755 3185.77 C T PASS 1/1 95 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 combined sample_41.variant5 12 rs7308811
dbSNP Clinvar 		9020489 3585.57 A G PASS 1/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.85264 0.85260 0.22254 0.57 0.00 None None None None None None A2ML1|0.011663794|79.48%
View combined sample_41.variant5 12 rs1476910
dbSNP Clinvar 		9020912 2671.54 A G PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.67772 0.67770 0.25352 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 combined sample_41.variant5 12 rs1546808
dbSNP Clinvar 		53703021 934.89 G A PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.91534 0.91530 0.09373 None None None None None None AAAS|0.160423573|41.47%

AACS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs77481673
dbSNP Clinvar 		125562892 1014.95 C T PASS 0/1 86 None None None 0.14677 0.14680 None None None None None None AACS|0.059537921|60.03%
View combined sample_41.variant5 12 rs7303092
dbSNP Clinvar 		125562809 2851.29 G A PASS 1/1 90 None None None 0.98582 0.98580 0.67 0.00 None None None None None None AACS|0.059537921|60.03%
View combined sample_41.variant5 12 rs11549081
dbSNP Clinvar 		125561151 292.78 A G PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.22065 0.22060 0.19383 1.00 0.00 None None None None None None AACS|0.059537921|60.03%

ABCC9
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 combined sample_41.variant5 12 rs10770865
dbSNP Clinvar 		22063115 2026.33 A G PASS 1/1 95 SYNONYMOUS_CODING LOW None 0.99720 0.99720 0.00354 None None None None None None ABCC9|0.261420458|30.64%

AC068987.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs172559
dbSNP Clinvar 		52204246 2561.95 T C PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.83846 0.83850 None None None None None None SCN8A|0.812099433|5.53%

ACACB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs7135947
dbSNP Clinvar 		109629457 5169.13 C T PASS 0/1 176 SYNONYMOUS_CODING LOW None 0.38139 0.38140 0.44503 None None None None None None ACACB|0.108212697|49.54%
View combined sample_41.variant5 12 rs2241220
dbSNP Clinvar 		109675029 907.46 T C PASS 1/1 115 SYNONYMOUS_CODING LOW None 0.77915 0.77920 0.19699 None None None None None None ACACB|0.108212697|49.54%
View combined sample_41.variant5 12 rs60293430
dbSNP Clinvar 		109665242 1529.15 G A PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.05172 0.05172 0.07520 0.23 0.91 None None None None None None ACACB|0.108212697|49.54%
View combined sample_41.variant5 12 rs11065772
dbSNP Clinvar 		109617865 1130.28 T C PASS 0/1 39 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%
View combined sample_41.variant5 12 rs2075260
dbSNP Clinvar 		109696838 1130.02 G A PASS 1/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.73882 0.73880 0.21898 1.00 0.00 None None None None None None ACACB|0.108212697|49.54%
View combined sample_41.variant5 12 rs2878960
dbSNP Clinvar 		109577735 1667.95 C T PASS 0/1 233 SYNONYMOUS_CODING LOW None 0.39776 0.39780 0.45448 None None None None None None ACACB|0.108212697|49.54%

ACADS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs1799958
dbSNP Clinvar 		121176083 1973.82 G A PASS 0/1 135 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.18231 0.18230 0.19683 0.01 0.44 None None None None None None ACADS|0.070436549|57.39%
View combined sample_41.variant5 12 rs3914
dbSNP Clinvar 		121174899 1516.31 T C PASS 1/1 144 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%
View combined sample_41.variant5 12 . 121176983 4443.73 C T PASS 0/1 335 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01 0.76 None None None None None None ACADS|0.070436549|57.39%
View combined sample_41.variant5 12 rs76543640
dbSNP Clinvar 		121174938 1459.75 C T PASS 0/1 112 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.07608 0.07608 0.00694 None None None None None None ACADS|0.070436549|57.39%
View combined sample_41.variant5 12 rs555404
dbSNP Clinvar 		121175984 1540.41 T C PASS 1/1 159 None None None 0.59385 0.59380 0.03 0.00 None None None None None None ACADS|0.070436549|57.39%
View combined sample_41.variant5 12 rs3915
dbSNP Clinvar 		121176679 1844.43 C T PASS 1/1 121 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs7968241
dbSNP Clinvar 		7463241 981.84 A T PASS 0/1 51 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs706815
dbSNP Clinvar 		52312944 1237.5 T C PASS 0/1 63 None None None 0.34345 0.34350 0.32493 None None None None None None ACVRL1|0.108673601|49.42%
View combined sample_41.variant5 12 rs706816
dbSNP Clinvar 		52312964 1163.9 A G PASS 0/1 55 None None None 0.34325 0.34330 0.03 0.15 None None None None None None ACVRL1|0.108673601|49.42%

ADAMTS20
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs11182088
dbSNP Clinvar 		43860526 887.4 A G PASS 1/1 85 SYNONYMOUS_CODING LOW None 0.43171 0.43170 0.31244 None None None None None None ADAMTS20|0.033294654|68.04%

AGAP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs17852479
dbSNP Clinvar 		58126234 5642.92 C A PASS 1/1 161 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs2028373
dbSNP Clinvar 		8757481 222.57 G A PASS 1/1 10 SYNONYMOUS_CODING LOW None 0.48423 0.48420 0.45065 None None None None None None AICDA|0.345530644|24.45%

AKAP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs11063266
dbSNP Clinvar 		4736677 4520.29 G C PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.91154 0.91150 0.05090 0.32 0.00 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_41.variant5 12 rs34392018
dbSNP Clinvar 		4735770 1686.94 G A PASS 0/1 143 SYNONYMOUS_CODING LOW None 0.01657 0.01657 0.02991 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_41.variant5 12 rs2072357
dbSNP Clinvar 		4735894 808.26 G A PASS 0/1 73 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 combined sample_41.variant5 12 rs1990313
dbSNP Clinvar 		4736086 1268.3 A G PASS 0/1 97 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 combined sample_41.variant5 12 rs1990312
dbSNP Clinvar 		4736495 2380.49 C T PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.98283 0.98280 0.02299 1.00 0.00 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_41.variant5 12 rs12366671
dbSNP Clinvar 		4736569 1219.14 A G PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.08826 0.08826 0.11433 0.96 0.00 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_41.variant5 12 rs11063265
dbSNP Clinvar 		4736631 3680.41 A G PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.98283 0.98280 0.02314 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_41.variant5 12 rs2072359
dbSNP Clinvar 		4735734 1869.44 T C PASS 0/1 147 SYNONYMOUS_CODING LOW None 0.14816 0.14820 0.08073 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_41.variant5 12 rs10774251
dbSNP Clinvar 		4736690 4469.05 A G PASS 1/1 115 SYNONYMOUS_CODING LOW None 0.97264 0.97260 0.03283 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_41.variant5 12 rs7960207
dbSNP Clinvar 		4737318 4205.54 A G PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.81749 0.81750 0.12133 None None None None None None AKAP3|0.022604217|72.88%

ALDH1L2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs11112330
dbSNP Clinvar 		105434467 1443.23 C T PASS 0/1 138 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 combined sample_41.variant5 12 rs4964317
dbSNP Clinvar 		105433523 1089.21 T A PASS 0/1 86 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs6582584
dbSNP Clinvar 		38712142 9124.73 C G PASS 1/1 263 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 combined sample_41.variant5 12 rs35518352
dbSNP Clinvar 		38715000 871.03 A G PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.25140 0.25140 0.35336 None None None None None None ALG10B|0.041656471|65.23%

AMIGO2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs140554877
dbSNP Clinvar 		47471957 1436.85 C T PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.41 0.00 None None None None None None AMIGO2|0.036937245|66.81%
View combined sample_41.variant5 12 rs2269828
dbSNP Clinvar 		47471439 2933.13 G A PASS 0/1 230 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs141475940
dbSNP Clinvar 		133810703 1082.16 G C PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.12999 0.13000 None None None None None None ANHX|0.002701855|89.23%
View combined sample_41.variant5 12 rs36146434
dbSNP Clinvar 		133803551 1614.44 G C PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.12919 0.12920 0.17 0.54 None None None None None None ANHX|0.002701855|89.23%
View combined sample_41.variant5 12 rs147259575
dbSNP Clinvar 		133808129 2081.61 C T PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.12820 0.12820 None None None None None None ANHX|0.002701855|89.23%
View combined sample_41.variant5 12 rs144454089
dbSNP Clinvar 		133795885 746.02 G A PASS 0/1 97 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
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs77646743
dbSNP Clinvar 		133303973 3731.09 C G PASS 0/1 312 NON_SYNONYMOUS_CODING MODERATE None 0.05431 0.05431 0.04385 0.55 0.03 None None None None None None ANKLE2|0.0109485|80.11%
View combined sample_41.variant5 12 rs78905764
dbSNP Clinvar 		133306710 1380.69 C T PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.05272 0.05272 0.05209 0.07 0.37 None None None None None None ANKLE2|0.0109485|80.11%

ANKRD13A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs2302689
dbSNP Clinvar 		110456175 2195.64 A G PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.31150 0.31150 0.31140 None None None None None None ANKRD13A|0.173001404|39.94%
View combined sample_41.variant5 12 . 110475350 539.45 T A PASS 0/1 56 SYNONYMOUS_CODING LOW None None None None None None None ANKRD13A|0.173001404|39.94%,C12orf76|0.006693755|83.86%

ANKRD33
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs697636
dbSNP Clinvar 		52282873 813.96 A T PASS 0/1 113 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 combined sample_41.variant5 12 rs3180417
dbSNP Clinvar 		52285086 336.84 G A PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.14697 0.14700 0.15570 None None None None None None ANKRD33|0.021337609|73.52%
View combined sample_41.variant5 12 rs143960014
dbSNP Clinvar 		52285090 1139.56 G A PASS 0/1 102 None None None 0.00779 0.00779 0.01922 1.00 0.00 None None None None None None ANKRD33|0.021337609|73.52%
View combined sample_41.variant5 12 rs697634
dbSNP Clinvar 		52282060 791.27 C T PASS 0/1 182 SYNONYMOUS_CODING LOW None 0.33167 0.33170 0.25811 None None None None None None ANKRD33|0.021337609|73.52%
View combined sample_41.variant5 12 rs34494292
dbSNP Clinvar 		52284500 3772.6 A G PASS 0/1 386 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%

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 combined sample_41.variant5 12 rs808919
dbSNP Clinvar 		56647911 1090.74 G C PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.80471 0.80470 0.20446 None None None None None None ANKRD52|0.243975122|32.09%
View combined sample_41.variant5 12 rs1274490
dbSNP Clinvar 		56649601 536.43 A G PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.80631 0.80630 0.20515 None None None None None None ANKRD52|0.243975122|32.09%

ANKS1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs77436242
dbSNP Clinvar 		99640159 1186.0 G C PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.01338 0.01338 0.03257 0.01 0.34 None None None None None None ANKS1B|0.915391472|3.1%
View combined sample_41.variant5 12 rs1552759
dbSNP Clinvar 		99640557 1402.02 T C PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.63219 0.63220 0.43523 None None None None None None ANKS1B|0.915391472|3.1%

ANO2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs3741902
dbSNP Clinvar 		6030302 790.25 T C PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.14736 0.14740 0.16035 None None None None None None ANO2|0.232649133|33.14%
View combined sample_41.variant5 12 rs3741903
dbSNP Clinvar 		6030405 1571.09 A G PASS 0/1 186 NON_SYNONYMOUS_CODING MODERATE None 0.15655 0.15650 0.16016 0.91 0.00 None None None None None None ANO2|0.232649133|33.14%
View combined sample_41.variant5 12 rs1860961
dbSNP Clinvar 		5841733 2036.97 A C PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.13698 0.13700 0.12448 0.30 0.01 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 combined sample_41.variant5 12 rs10431309
dbSNP Clinvar 		7803646 937.68 G A PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.24201 0.24200 0.20844 None None None None None None APOBEC1|0.005430298|85.3%
View combined sample_41.variant5 12 rs2302515
dbSNP Clinvar 		7805236 2672.19 C G PASS 1/1 103 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
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs935240
dbSNP Clinvar 		105568176 957.52 G A PASS 0/1 97 SYNONYMOUS_CODING LOW None 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%
View combined sample_41.variant5 12 rs935241
dbSNP Clinvar 		105568122 964.83 G A PASS 0/1 107 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 combined sample_41.variant5 12 rs426496
dbSNP Clinvar 		50348078 1286.11 T C PASS 0/1 126 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

AQP5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs41308104
dbSNP Clinvar 		50358888 841.03 G A PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.00499 0.00499 0.01353 None None None None None None AQP5|0.079080218|55.37%

ARF3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs12122
dbSNP Clinvar 		49334762 2794.76 G C PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.92312 0.92310 0.09227 None None None None None None ARF3|0.720861562|7.96%

ARHGAP9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs2277315
dbSNP Clinvar 		57869582 959.07 T C PASS 1/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.59066 0.59070 0.28836 0.47 0.00 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%
View combined sample_41.variant5 12 rs11544238
dbSNP Clinvar 		57870155 1686.28 A C PASS 1/1 51 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%
View combined sample_41.variant5 12 rs3825080
dbSNP Clinvar 		57871555 1604.5 A G PASS 1/1 61 None None None 0.61082 0.61080 0.02 0.00 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%

ARHGDIB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs4703
dbSNP Clinvar 		15095558 1689.93 C G PASS 0/1 169 SYNONYMOUS_CODING LOW None 0.48183 0.48180 0.49439 None None None None None None ARHGDIB|0.131635037|45.66%
View combined sample_41.variant5 12 rs2430711
dbSNP Clinvar 		15103605 2301.07 A G PASS 1/1 74 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00008 None None None None None None ARHGDIB|0.131635037|45.66%

ASCL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs794726916
dbSNP Clinvar 		103352171 3275.08 CG... CG... PASS 0/1 77 CODON_INSERTION 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
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs653576
dbSNP Clinvar 		50452708 8106.53 C G PASS 1/1 244 SYNONYMOUS_CODING LOW None 0.92752 0.92750 0.03721 None None None None None None ASIC1|0.372226278|22.59%
View combined sample_41.variant5 12 rs706793
dbSNP Clinvar 		50467769 1927.97 G A PASS 0/1 256 None None None 0.22804 0.22800 None None None None None None ASIC1|0.372226278|22.59%
View combined sample_41.variant5 12 rs706792
dbSNP Clinvar 		50467644 778.96 G T PASS 0/1 101 None None None 0.22844 0.22840 0.12 0.70 None None None None None None ASIC1|0.372226278|22.59%

ASUN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs3210635
dbSNP Clinvar 		27064232 807.85 C T PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.57927 0.57930 0.48731 None None None None None None ASUN|0.615904164|11.26%

ATF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs1129406
dbSNP Clinvar 		51203371 1867.15 C T PASS 0/1 117 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39337 0.39340 0.44687 None None None None None None ATF1|0.419687385|19.6%

ATN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 . 7045891 3369.13 AC... AC... PASS 0/3 148 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATN1|0.702926343|8.41%

ATP2A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs55984131
dbSNP Clinvar 		110734406 1434.3 A G PASS 0/1 134 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00359 0.00359 0.00654 None None None None None None ATP2A2|0.319412756|26.18%
View combined sample_41.variant5 12 rs3026434
dbSNP Clinvar 		110719675 2498.92 A G PASS 0/1 233 SYNONYMOUS_CODING LOW None 0.00719 0.00719 0.00924 None None None None None None ATP2A2|0.319412756|26.18%

ATP5G2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs2857000
dbSNP Clinvar 		54067544 341.28 A G PASS 1/1 6 None None None 0.99541 0.99540 None None None None None None ATP5G2|0.247262902|31.81%

ATP6V0A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs1139789
dbSNP Clinvar 		124209332 1781.31 T C PASS 0/1 125 SYNONYMOUS_CODING LOW None 0.75100 0.75100 0.35338 None None None None None None ATP6V0A2|0.124260234|46.77%
View combined sample_41.variant5 12 rs1399961
dbSNP Clinvar 		124210782 1223.83 T C PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.74980 0.74980 0.36014 None None None None None None ATP6V0A2|0.124260234|46.77%
View combined sample_41.variant5 12 rs367950442
dbSNP Clinvar 		124235735 1539.01 T C PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.00008 None None None None None None ATP6V0A2|0.124260234|46.77%
View combined sample_41.variant5 12 rs7135542
dbSNP Clinvar 		124229429 2448.64 T C PASS 0/1 262 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.79952 0.79950 0.30463 None None None None None None ATP6V0A2|0.124260234|46.77%

ATXN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_41.variant5 12 rs4098854
dbSNP Clinvar 		112036797 220.19 C T PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.65675 0.65670 None None None None None None ATXN2|0.872313714|4.16%
View combined sample_41.variant5 12 rs10560189,rs67658094
dbSNP Clinvar 		112036753 425.02 GGCT G PASS 1/1 57 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.95108 0.95110 0.09190 None None None None None None ATXN2|0.872313714|4.16%
View combined sample_41.variant5 12 rs695872
dbSNP Clinvar 		112036929 336.08 G A PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.44429 0.44430 None None None None None None ATXN2|0.872313714|4.16%
View combined sample_41.variant5 12 rs695871
dbSNP Clinvar 		112037000 774.73 G C PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.44429 0.44430 0.41 0.00 None None None None None None ATXN2|0.872313714|4.16%

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 combined sample_41.variant5 12 rs200254571
dbSNP Clinvar 		58196041 1386.66 C T PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.07 0.27 None None None None None None TSFM|0.139697983|44.43%,AVIL|0.110773027|49.04%
View combined sample_41.variant5 12 rs2172521
dbSNP Clinvar 		58204283 2841.43 T C PASS 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.32 0.00 None None None None None None AVIL|0.110773027|49.04%