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+ Genes 487

Genes:
A2M, A2ML1, AAAS, ABCC9, ACACB, ACADS, ACSM4, ADAMTS20, ADCY6, AGAP2, AICDA, AKAP3, ALDH1L2, ALG10, ALG10B, AMDHD1, ANKLE2, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO4, APAF1, APOBEC1, APPL2, AQP2, ARF3, ARHGAP9, ARHGDIB, ARHGEF25, ART4, ASCL1, ASIC1, ASUN, ATF7, ATF7IP, ATN1, ATP2A2, ATP6V0A2, ATXN2, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT1, B4GALNT3, BAZ2A, BCL2L14, BCL7A, BEST3, BICD1, BIN2, BTBD11, C12orf10, C12orf29, C12orf4, C12orf40, C12orf42, C12orf43, C12orf45, C12orf49, C12orf54, C12orf56, C12orf60, C12orf65, C12orf66, C12orf68, C12orf71, C12orf73, C12orf77, C12orf79, C1R, C1S, C2CD5, CACNA1C, CACNA2D4, CAND1, CAPRIN2, CAPS2, CASC1, CCDC38, CCDC41, CCDC42B, CCDC60, CCDC62, CCDC64, CCDC65, CCDC92, CCNT1, CD163, CD163L1, CD27, CD4, CD69, CDKN1B, CELA1, CEP290, CERS5, CHD4, CHFR, CHPT1, CIT, CLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC2D, CLEC4A, CLEC4C, CLEC9A, CLECL1, CLIP1, CLLU1, CMKLR1, CNTN1, COL2A1, COPS7A, COPZ1, CPM, CPSF6, CRADD, CRY1, CUX2, DAO, DAZAP2, DBX2, DCP1B, DDIT3, DDX11, DDX23, DDX51, DDX54, DDX55, DENND5B, DGKA, DHX37, DIP2B, DNAH10, DNM1L, DTX1, DUSP6, DYRK2, DYRK4, E2F7, EEA1, EFCAB4B, EID3, EIF4B, EMG1, EP400, ERBB3, ESPL1, ETV6, FAM109A, FAM186A, FAM186B, FAM90A1, FBRSL1, FBXW8, FGD4, FGD6, FGF6, FICD, FOXM1, FOXN4, FRS2, FZD10, GALNT4, GALNT9, GAS2L3, GATC, GCN1L1, GLI1, GLIPR1L2, GLS2, GLT8D2, GNB3, GNPTAB, GNS, GOLGA3, GPD1, GPR133, GPR162, GPR19, GPRC5D, GRIN2B, GRIP1, GTF2H3, GUCY2C, GXYLT1, GYS2, H1FNT, HAL, HCAR2, HCAR3, HDAC7, HECTD4, HELB, HIP1R, HNF1A, HOXC11, HOXC9, HPD, HSP90B1, IFLTD1, INHBE, IPO8, IQSEC3, IRAK3, ISCU, ITGA5, ITPR2, KANSL2, KCNA1, KCNA5, KCNA6, KCNC2, KCNH3, KERA, KIAA1033, KIAA1467, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRF2, KLRK1, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT6C, KRT7, KRT71, KRT72, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT86, KSR2, LAG3, LDHB, LEPREL2, LGR5, LHX5, LRIG3, LRMP, LRP1, LRP6, LRRC43, LRRIQ1, LRRK2, MANSC1, MANSC4, MCRS1, MDM1, MED13L, MED21, METTL25, MGAT4C, MGP, MLXIP, MMP17, MMP19, MON2, MPHOSPH9, MUCL1, MYBPC1, NAA25, NACA, NANOG, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCOR2, NDUFA9, NELL2, NOS1, NR4A1, NT5DC3, NTF3, NTN4, NUP107, NXPH4, OAS1, OAS2, OAS3, OASL, OR10AD1, OR10P1, OR6C1, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C74, OR6C76, OR8S1, OR9K2, OS9, OTOGL, OVCH1, P2RX2, P2RX7, PAH, PAN2, PDE1B, PDE3A, PFKM, PHC1, PHLDA1, PIK3C2G, PIP4K2C, PIWIL1, PKP2, PLBD1, PLBD2, PLEKHA5, PLEKHG6, PLEKHG7, PLXNC1, PMEL, POLE, POLR3B, POP5, PPFIA2, PPFIBP1, PPP1R1A, PPTC7, PRB4, PRH2, PRICKLE1, PRIM1, PRPH, PRR4, PSMD9, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PUS1, PXN, PYROXD1, PZP, R3HDM2, RAD51AP1, RAD52, RAPGEF3, RASAL1, RASSF3, RBM19, RBMS2, RBP5, REP15, RERG, RERGL, RILPL1, RIMBP2, RIMKLB, RITA1, RND1, RNFT2, RPH3A, RPLP0, SART3, SBNO1, SCARB1, SCN8A, SCNN1A, SENP1, SETD1B, SFSWAP, SH2B3, SLC11A2, SLC15A4, SLC15A5, SLC26A10, SLC2A14, SLC2A3, SLC38A2, SLC38A4, SLC41A2, SLC4A8, SLC5A8, SLC6A12, SLC6A13, SLC8B1, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SOAT2, SP1, SP7, SPIC, SPRYD4, SRGAP1, SRRM4, SSPN, ST8SIA1, STAB2, STAC3, STK38L, STX2, STYK1, SUOX, SYT1, TAOK3, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R30, TAS2R31, TAS2R42, TAS2R46, TAS2R50, TAS2R8, TAS2R9, TCP11L2, TCTN2, TDG, TENC1, TIMELESS, TMBIM6, TMCC3, TMED2, TMEM106C, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM233, TMPO, TMPRSS12, TMTC3, TNFRSF1A, TPCN1, TPH2, TROAP, TSPAN11, TSPAN8, TSPAN9, TUBA1C, TXNRD1, UBC, UHRF1BP1L, ULK1, USP15, USP30, UTP20, VDR, VEZT, VWF, WDR66, WIBG, WNK1, WNT10B, WSB2, XRCC6BP1, YARS2, ZDHHC17, ZFC3H1, ZNF10, ZNF140, ZNF268, ZNF385A, ZNF641,

+ Genes associated with diseases 124

Genes at Omim

A2M, A2ML1, AAAS, ABCC9, ACADS, ADCY6, AICDA, ALG10B, ANKLE2, AQP2, ART4, ASCL1, ATN1, ATP2A2, ATP6V0A2, ATXN2, B4GALNT1, BCL7A, C12orf4, C12orf65, C1R, C1S, CACNA1C, CACNA2D4, CCDC65, CD27, CD4, CDKN1B, CEP290, CHD4, CIT, CLEC1A, CNTN1, COL2A1, CRADD, CRY1, CUX2, DDX11, DIP2B, DNM1L, DUSP6, EMG1, ERBB3, ETV6, FGD4, GLI1, GNB3, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, IRAK3, ISCU, ITPR2, KCNA1, KCNA5, KERA, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT6C, KRT71, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MGP, MMP19, MYBPC1, NCAPD2, NDUFA9, NUP107, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, PKP2, POLE, POLR3B, PRICKLE1, PRPH, PTPRO, PTPRQ, PUS1, PYROXD1, SCARB1, SCN8A, SCNN1A, SH2B3, SLC11A2, SLCO1B1, SLCO1B3, SP7, SRGAP1, STAC3, SUOX, SYT1, TCTN2, TMTC3, TNFRSF1A, TPH2, VDR, VWF, WDR66, WNK1, WNT10B, YARS2,
A2M Alpha-2-macroglobulin deficiency, 614036 (1)
{Alzheimer disease, susceptibility to}, 104300 (3)
A2ML1 {Otitis media, susceptibility to}, 166760 (3)
AAAS Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
ABCC9 Atrial fibrillation, familial, 12, 614050 (3)
Cardiomyopathy, dilated, 1O, 608569 (3)
Hypertrichotic osteochondrodysplasia, 239850 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ADCY6 ?Lethal congenital contracture syndrome 8, 616287 (3)
AICDA Immunodeficiency with hyper-IgM, type 2, 605258 (3)
ALG10B {Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3)
ANKLE2 ?Microcephaly 16, primary, autosomal recessive, 616681 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ART4 [Blood group, Dombrock], 616060 (3)
ASCL1 Haddad syndrome, 209880 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
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)
B4GALNT1 Spastic paraplegia 26, autosomal recessive, 609195 (3)
BCL7A B-cell non-Hodgkin lymphoma, high-grade (3)
C12orf4 Mental retardation, autosomal recessive 66, 618221 (3)
C12orf65 Combined oxidative phosphorylation deficiency 7, 613559 (3)
Spastic paraplegia 55, autosomal recessive, 615035 (3)
C1R Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3)
C1S C1s deficiency, 613783 (3)
Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3)
CACNA1C Brugada syndrome 3, 611875 (3)
Timothy syndrome, 601005 (3)
CACNA2D4 Retinal cone dystrophy 4, 610478 (3)
CCDC65 Ciliary dyskinesia, primary, 27, 615504 (3)
CD27 Lymphoproliferative syndrome 2, 615122 (3)
CD4 OKT4 epitope deficiency, 613949 (3)
CDKN1B Multiple endocrine neoplasia, type IV, 610755 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
CHD4 Sifrim-Hitz-Weiss syndrome, 617159 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLEC1A {Aspergillosis, susceptibility to}, 614079 (3)
CNTN1 ?Myopathy, congenital, Compton-North, 612540 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
CRADD Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (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)
DNM1L Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3)
Optic atrophy 5, 610708 (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)
ISCU Myopathy with lactic acidosis, hereditary, 255125 (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)
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)
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)
MGP Keutel syndrome, 245150 (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)
NUP107 Galloway-Mowat syndrome 7, 618348 (3)
Nephrotic syndrome, type 11, 616730 (3)
?Ovarian dysgenesis 6, 618078 (3)
OTOGL Deafness, autosomal recessive 84B, 614944 (3)
P2RX2 Deafness, autosomal dominant 41, 608224 (3)
PAH Phenylketonuria, 261600 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PDE3A Hypertension and brachydactyly syndrome, 112410 (3)
PFKM Glycogen storage disease VII, 232800 (3)
PHC1 ?Microcephaly 11, primary, autosomal recessive, 615414 (3)
PKP2 Arrhythmogenic right ventricular dysplasia 9, 609040 (3)
POLE IMAGE-I syndrome, 618336 (3)
FILS syndrome, 615139 (3)
{Colorectal cancer, susceptibility to, 12}, 615083 (3)
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
PRICKLE1 Epilepsy, progressive myoclonic 1B, 612437 (3)
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)
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3)
PYROXD1 Myopathy, myofibrillar, 8, 617258 (3)
SCARB1 [High density lipoprotein cholesterol level QTL6], 610762 (3)
SCN8A Cognitive impairment with or without cerebellar ataxia, 614306 (3)
Epileptic encephalopathy, early infantile, 13, 614558 (3)
?Myoclonus, familial, 2, 618364 (3)
Seizures, benign familial infantile, 5, 617080 (3)
SCNN1A Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)
?Liddle syndrome 3, 618126 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SH2B3 Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
SLC11A2 Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)
SLCO1B1 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SP7 Osteogenesis imperfecta, type XII, 613849 (3)
SRGAP1 {Thyroid cancer, nonmedullary, 2}, 188470 (3)
STAC3 Myopathy, congenital, Baily-Bloch, 255995 (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)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
VDR ?Osteoporosis, involutional, 166710 (1)
Rickets, vitamin D-resistant, type IIA, 277440 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WDR66 Spermatogenic failure 33, 618152 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
WNT10B Split-hand/foot malformation 6, 225300 (3)
Tooth agenesis, selective, 8, 617073 (3)
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)

Genes at Clinical Genomics Database

A2M, AAAS, ABCC9, ACADS, ADCY6, AICDA, ANKLE2, AQP2, ART4, ASCL1, ATN1, ATP2A2, ATP6V0A2, ATXN2, C1S, CACNA1C, CACNA2D4, CCDC65, CD27, CD4, CDKN1B, CEP290, CHD4, CNTN1, COL2A1, CRADD, DDX11, DIP2B, DNM1L, DUSP6, EMG1, ERBB3, ETV6, FGD4, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, ISCU, ITPR2, KCNA1, KCNA5, KERA, KIAA1033, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT6C, KRT71, KRT74, KRT75, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MGP, MMP19, MYBPC1, NDUFA9, NUP107, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, PKP2, POLE, POLR3B, PRICKLE1, PTPRO, PTPRQ, PUS1, SART3, SCN8A, SCNN1A, SLC11A2, SLCO1B1, SLCO1B3, SP7, SUOX, TCTN2, TMPO, TNFRSF1A, VDR, VWF, WNK1, WNT10B, YARS2,
A2M Alpha-2-macroglobulin deficiency
AAAS Achalasia-addisonianism-alacrimia syndrome
ABCC9 Cardiomyopathy, dilated, 10
Atrial fibrillation, familial 12
Cantu syndrome
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ADCY6 Lethal congenital contracture syndrome 8
AICDA Immunodeficiency with hyper-IgM, type 2
ANKLE2 Microcephaly, primary autosomal recessive, 16
AQP2 Diabetes insipidus, nephrogenic, autosomal
ART4 Blood group, Dombrock
ASCL1 Central hypoventilation syndrome, congenital (Haddad syndrome)
ATN1 Dentatorubro-pallidoluysian atrophy
ATP2A2 Darier-White disease
Acrokeratosis verruciformis (Hopf disease)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
ATXN2 Spinocerebellar ataxia 2
C1S Complement component C1s deficiency
CACNA1C Brugada syndrome 3
Timothy syndrome
CACNA2D4 Retinal cone dystrophy 4
CCDC65 Ciliary dyskinesia, primary, 27
CD27 Lymphoproliferative syndrome 2
CD4 OKT4 epitope deficiency
CDKN1B Multiple endocrine neoplasia, type IV
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CHD4 Schizophrenia
CNTN1 Myopathy, congenital, Compton-North
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
CRADD Mental retardation, autosomal recessive 34
DDX11 Warsaw breakage syndrome
DIP2B Mental retardation, FRA12A type
DNM1L Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
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
ISCU Myopathy with lactic acidosis, hereditary
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
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
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
MGP Keutel syndrome
MMP19 Cavitary optic disc anomalies
MYBPC1 Arthrogryposis, distal, type 1B
Lethal congenital contractural syndrome 4
NDUFA9 Mitochondrial complex I deficiency
Leigh syndrome
NUP107 Nephrotic syndrome, type 11
OTOGL Deafness, autosomal recessive 84B
P2RX2 Deafness, autosomal dominant 41
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
PDE3A Hypertension with brachydactyly
PFKM Glycogen storage disease VII
PHC1 Primary microcephaly 11
PKP2 Arrhythmogenic right ventricular dysplasia, familial 9
POLE Colorectal cancer, susceptibility to, 12
Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
PRICKLE1 Epilepsy, progressive myoclonic, 1B
PTPRO Nephrotic syndrome, type 6
PTPRQ Deafness, autosomal recessive 84
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1
SART3 Porokeratosis, disseminated superficial actinic, 1
SCN8A Cognitive impairment with or without cerebellar ataxia
Epileptic encephalopathy, early infantile, 13
SCNN1A Pseudohypoaldosteronism, type I
Bronchiectasis with or without elevated sweat chloride 2
SLC11A2 Anemia, hypochromic microcytic, with iron overload
SLCO1B1 Statin-induced myopathy
Hyperbilirubinemia, Rotor type, digenic
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic
SP7 Osteogenesis imperfecta, type XII
SUOX Sulfocysteinuria
TCTN2 Joubert syndrome 24
Meckel syndrome 8
TMPO Cardiomyopathy, dilated, 1T
TNFRSF1A Periodic fever, familial (TNF receptor-associated periodic syndrome)
VDR Vitamin D-dependent rickets, type 2A
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
WNT10B Split-hand/foot malformation 6
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2

Genes at HGMD

Summary

Number of Variants: 2017
Number of Genes: 487

Export to: CSV

A2M
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs226405
dbSNP Clinvar 		9248233 734.836 T C PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.99780 0.99780 0.00235 0.91 0.00 None None None None None None A2M|0.10920489|49.36%
View allfamilies BIQ 12 rs2228222
dbSNP Clinvar 		9254241 304.49 G A PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.03494 0.03494 0.04675 None None None None None None A2M|0.10920489|49.36%
View allfamilies BIQ 12 rs669
dbSNP Clinvar 		9232268 704.529 T C PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.25439 0.25440 0.31965 0.34 0.01 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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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs1860967
dbSNP Clinvar 		9013755 196.206 C T PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.43231 0.43230 0.30165 0.02 0.67 None None None None None None A2ML1|0.011663794|79.48%
View allfamilies BIQ 12 rs1860927
dbSNP Clinvar 		9004512 3841.6 G A PASS 0/1 145 SYNONYMOUS_CODING LOW None 0.86821 0.86820 0.19218 None None None None None None A2ML1|0.011663794|79.48%
View allfamilies BIQ 12 rs1860926
dbSNP Clinvar 		9004892 2734.53 C A PASS 1/1 195 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 allfamilies BIQ 12 rs73040625
dbSNP Clinvar 		9016456 83.5976 C T PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.02256 0.02256 0.06096 0.24 0.02 None None None None None None A2ML1|0.011663794|79.48%
View allfamilies BIQ 12 rs10219561
dbSNP Clinvar 		9016573 2027.34 A G PASS 1/1 194 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 allfamilies BIQ 12 rs7308811
dbSNP Clinvar 		9020489 497.838 A G PASS 0/1 24 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 allfamilies BIQ 12 rs1476910
dbSNP Clinvar 		9020912 2223.66 A G PASS 0/1 207 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 allfamilies BIQ 12 rs1546808
dbSNP Clinvar 		53703021 2146.37 G A PASS 1/1 208 SYNONYMOUS_CODING LOW None 0.91534 0.91530 0.09373 None None None None None None AAAS|0.160423573|41.47%
View allfamilies BIQ 12 rs11540353
dbSNP Clinvar 		53708910 216.732 A G PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.03634 0.03634 0.07573 None None None None None None AAAS|0.160423573|41.47%

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 allfamilies BIQ 12 rs10770865
dbSNP Clinvar 		22063115 1012.81 A G PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.99720 0.99720 0.00354 None None None None None None ABCC9|0.261420458|30.64%

ACACB
Omim - GeneCards - NCBI
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 allfamilies BIQ 12 rs4766516
dbSNP Clinvar 		109605730 2384.19 C T PASS 0/1 263 SYNONYMOUS_CODING LOW None 0.23163 0.23160 0.15708 None None None None None None ACACB|0.108212697|49.54%
View allfamilies BIQ 12 rs2878960
dbSNP Clinvar 		109577735 2081.02 C T PASS 1/1 219 SYNONYMOUS_CODING LOW None 0.39776 0.39780 0.45448 None None None None None None ACACB|0.108212697|49.54%
View allfamilies BIQ 12 rs11065772
dbSNP Clinvar 		109617865 1730.83 T C PASS 1/1 99 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%
View allfamilies BIQ 12 rs2300455
dbSNP Clinvar 		109623516 1787.65 G A PASS 0/1 292 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.15955 0.15950 0.14624 0.04 0.48 None None None None None None ACACB|0.108212697|49.54%
View allfamilies BIQ 12 rs2241220
dbSNP Clinvar 		109675029 3768.05 T C PASS 1/1 684 SYNONYMOUS_CODING LOW None 0.77915 0.77920 0.19699 None None None None None None ACACB|0.108212697|49.54%
View allfamilies BIQ 12 rs2075260
dbSNP Clinvar 		109696838 288.17 G A PASS 1/1 20 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 allfamilies BIQ 12 rs3742023
dbSNP Clinvar 		109693982 1131.89 C T PASS 0/1 74 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs3915
dbSNP Clinvar 		121176679 1698.42 C T PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.67312 0.67310 0.40804 None None None None None None ACADS|0.070436549|57.39%
View allfamilies BIQ 12 rs3914
dbSNP Clinvar 		121174899 1221.73 T C PASS 0/1 118 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ACSM4
Omim - GeneCards - NCBI
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 allfamilies BIQ 12 rs7968241
dbSNP Clinvar 		7463241 1642.03 A T PASS 1/1 172 SYNONYMOUS_CODING LOW None 0.32308 0.32310 0.43174 None None None None None None ACSM4|0.022577905|72.89%

ADAMTS20
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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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 allfamilies BIQ 12 rs10506226
dbSNP Clinvar 		43769228 242.05 A C PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.22244 0.22240 0.26150 None None None None None None ADAMTS20|0.033294654|68.04%
View allfamilies BIQ 12 rs10880473
dbSNP Clinvar 		43769276 222.496 T C PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.22384 0.22380 0.26257 None None None None None None ADAMTS20|0.033294654|68.04%

ADCY6
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 allfamilies BIQ 12 rs3730308
dbSNP Clinvar 		49176872 120.207 G T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.15036 0.15040 0.18061 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 allfamilies BIQ 12 rs17852479
dbSNP Clinvar 		58126234 2687.68 C A PASS 0/1 399 SYNONYMOUS_CODING LOW None 0.21566 0.21570 0.31812 None None None None None None AGAP2|0.196777896|37.07%

AICDA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs2028373
dbSNP Clinvar 		8757481 309.669 G A PASS 1/1 16 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 allfamilies BIQ 12 rs11063265
dbSNP Clinvar 		4736631 2015.66 A G PASS 1/1 165 SYNONYMOUS_CODING LOW None 0.98283 0.98280 0.02314 None None None None None None AKAP3|0.022604217|72.88%
View allfamilies BIQ 12 rs10774251
dbSNP Clinvar 		4736690 844.49 A G PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.97264 0.97260 0.03283 None None None None None None AKAP3|0.022604217|72.88%
View allfamilies BIQ 12 rs7960207
dbSNP Clinvar 		4737318 1452.18 A G PASS 1/1 153 SYNONYMOUS_CODING LOW None 0.81749 0.81750 0.12133 None None None None None None AKAP3|0.022604217|72.88%
View allfamilies BIQ 12 rs2072358
dbSNP Clinvar 		4735737 519.77 A G PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.26418 0.26420 0.24789 None None None None None None AKAP3|0.022604217|72.88%
View allfamilies BIQ 12 rs1990312
dbSNP Clinvar 		4736495 1373.97 C T PASS 1/1 141 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 allfamilies BIQ 12 rs11063266
dbSNP Clinvar 		4736677 822.81 G C PASS 1/1 38 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 allfamilies BIQ 12 rs12366671
dbSNP Clinvar 		4736569 312.54 A G PASS 0/1 132 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 allfamilies BIQ 12 rs2072355
dbSNP Clinvar 		4737715 1626.33 C T PASS 0/1 251 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 allfamilies BIQ 12 rs2072356
dbSNP Clinvar 		4737459 893.11 C T PASS 0/1 109 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 allfamilies BIQ 12 rs74449999
dbSNP Clinvar 		105464485 583.834 G A PASS 0/1 227 SYNONYMOUS_CODING LOW None 0.01178 0.01178 0.02776 None None None None None None ALDH1L2|0.155583388|42.19%

ALG10
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 allfamilies BIQ 12 rs754034632
dbSNP Clinvar 		34179716 16.3424 C A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.41 None None None None None None ALG10|0.013136993|78.43%

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 allfamilies BIQ 12 rs6582584
dbSNP Clinvar 		38712142 1028.15 C G PASS 1/1 61 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%

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 allfamilies BIQ 12 rs7955450
dbSNP Clinvar 		96337183 680.132 A G PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.71845 0.71850 0.56 0.00 None None None None None None AMDHD1|0.4419198|18.57%

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 allfamilies BIQ 12 . 133306590 291.77 G T PASS 0/1 153 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ANKLE2|0.0109485|80.11%
View allfamilies BIQ 12 rs10781634
dbSNP Clinvar 		133306589 1063.05 C T PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.24720 0.24720 0.31189 0.16 0.00 None None None None None None ANKLE2|0.0109485|80.11%
View allfamilies BIQ 12 rs1132375
dbSNP Clinvar 		133331537 639.75 G A PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.26038 0.26040 0.30305 0.04 0.18 None None None None None None ANKLE2|0.0109485|80.11%
View allfamilies BIQ 12 rs200898706
dbSNP Clinvar 		133312024 143.957 C T PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00056 None None None None None None ANKLE2|0.0109485|80.11%

ANKRD33
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs34494292
dbSNP Clinvar 		52284500 644.111 A G PASS 0/1 288 NON_SYNONYMOUS_CODING MODERATE None 0.14896 0.14900 0.15601 0.15 0.05 None None None None None None ANKRD33|0.021337609|73.52%
View allfamilies BIQ 12 rs3180417
dbSNP Clinvar 		52285086 309.185 G A PASS 0/1 152 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 allfamilies BIQ 12 rs808919
dbSNP Clinvar 		56647911 2010.03 G C PASS 1/1 211 SYNONYMOUS_CODING LOW None 0.80471 0.80470 0.20446 None None None None None None ANKRD52|0.243975122|32.09%
View allfamilies BIQ 12 rs1274490
dbSNP Clinvar 		56649601 844.3 A G PASS 1/1 57 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 allfamilies BIQ 12 rs3751323
dbSNP Clinvar 		99640428 2108.39 T C PASS 0/1 201 SYNONYMOUS_CODING LOW None 0.54832 0.54830 0.39685 None None None None None None ANKS1B|0.915391472|3.1%
View allfamilies BIQ 12 rs1552759
dbSNP Clinvar 		99640557 832.23 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.63219 0.63220 0.43523 None None None None None None ANKS1B|0.915391472|3.1%
View allfamilies BIQ 12 rs77436242
dbSNP Clinvar 		99640159 119.084 G C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.01338 0.01338 0.03257 0.01 0.77 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 allfamilies BIQ 12 rs2277398
dbSNP Clinvar 		5674754 946.96 G A PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.34225 0.34230 0.39520 None None None None None None ANO2|0.232649133|33.14%
View allfamilies BIQ 12 rs3741904
dbSNP Clinvar 		6030437 655.16 A G PASS 0/1 468 SYNONYMOUS_CODING LOW None 0.09465 0.09465 0.04787 None None None None None None ANO2|0.232649133|33.14%
View allfamilies BIQ 12 rs3741902
dbSNP Clinvar 		6030302 542.31 T C PASS 0/1 225 SYNONYMOUS_CODING LOW None 0.14736 0.14740 0.16035 None None None None None None ANO2|0.232649133|33.14%
View allfamilies BIQ 12 rs3741903
dbSNP Clinvar 		6030405 323.29 A G PASS 0/1 203 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%

ANO4
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 allfamilies BIQ 12 rs1055734
dbSNP Clinvar 		101520689 362.12 A G PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.14717 0.14720 0.13732 None None None None None None ANO4|0.60629619|11.58%
View allfamilies BIQ 12 rs34182255
dbSNP Clinvar 		101295602 447.056 C G PASS 0/1 220 SYNONYMOUS_CODING LOW None 0.12001 0.12000 0.13924 None None None None None None ANO4|0.60629619|11.58%

APAF1
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 allfamilies BIQ 12 rs73142307
dbSNP Clinvar 		99071283 121.85 A C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.00300 0.00300 0.00554 0.55 0.00 None None None None None None APAF1|0.914615955|3.12%

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 allfamilies BIQ 12 rs2302515
dbSNP Clinvar 		7805236 3825.42 C G PASS 1/1 189 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 allfamilies BIQ 12 rs935240
dbSNP Clinvar 		105568176 1398.38 G A PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%
View allfamilies BIQ 12 rs935241
dbSNP Clinvar 		105568122 1361.59 G A PASS 1/1 115 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs426496
dbSNP Clinvar 		50348078 1871.92 T C PASS 0/1 203 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

ARF3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs12122
dbSNP Clinvar 		49334762 3407.64 G C PASS 1/1 271 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs34160414
dbSNP Clinvar 		57871437 882.399 C T PASS 0/1 492 SYNONYMOUS_CODING LOW None 0.09704 0.09704 0.09951 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%
View allfamilies BIQ 12 rs34133632
dbSNP Clinvar 		57868243 239.727 G A PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.06450 0.06450 0.06389 None None None None None None ARHGAP9|0.04826806|63.22%

ARHGDIB
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 allfamilies BIQ 12 rs2430711
dbSNP Clinvar 		15103605 2015.64 A G PASS 1/1 215 SYNONYMOUS_CODING LOW None 1.00000 1.00000 0.00008 None None None None None None ARHGDIB|0.131635037|45.66%

ARHGEF25
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs1564374
dbSNP Clinvar 		58010163 309.868 A G PASS 0/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.63019 0.63020 0.44610 1.00 0.00 None None None None None None ARHGEF25|0.10608037|49.98%

ART4
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs1861698
dbSNP Clinvar 		14993854 351.23 A G PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.25619 0.25620 0.34284 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%
View allfamilies BIQ 12 rs3088189
dbSNP Clinvar 		14993608 481.15 G A PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.29273 0.29270 0.35591 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%
View allfamilies BIQ 12 rs11276
dbSNP Clinvar 		14993439 537.339 C T PASS 0/1 337 NON_SYNONYMOUS_CODING MODERATE None 0.29273 0.29270 0.35599 1.00 0.00 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%

ASCL1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs731682
dbSNP Clinvar 		103352649 434.752 C G PASS 0/1 142 SYNONYMOUS_CODING LOW None 0.07129 0.07129 0.10393 None None None None None None ASCL1|0.898371145|3.46%

ASIC1
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 allfamilies BIQ 12 rs653576
dbSNP Clinvar 		50452708 1214.53 C G PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.92752 0.92750 0.03721 None None None None None None ASIC1|0.372226278|22.59%

ASUN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs3210635
dbSNP Clinvar 		27064232 1074.65 C T PASS 0/1 97 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs33921258
dbSNP Clinvar 		53946410 269.328 G A PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.04253 0.04253 0.07977 None None None None None None ATF7|0.474274586|17%

ATF7IP
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 allfamilies BIQ 12 rs3213764
dbSNP Clinvar 		14587301 1489.67 A G PASS 1/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.42242 0.01 0.49 None None None None None None ATF7IP|0.114905203|48.34%

ATN1
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 allfamilies BIQ 12 rs7969685
dbSNP Clinvar 		7047143 3853.65 C A PASS 0/1 513 SYNONYMOUS_CODING LOW None 0.16254 0.16250 0.26462 None None None None None None ATN1|0.702926343|8.41%
View allfamilies BIQ 12 rs11547602
dbSNP Clinvar 		7046077 328.4 G A PASS 0/1 169 SYNONYMOUS_CODING LOW None 0.01138 0.01138 0.03122 None None None None None None ATN1|0.702926343|8.41%

ATP2A2
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 allfamilies BIQ 12 rs748870034
dbSNP Clinvar 		110720592 59.043 A G PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.68 0.25 None None None None None None ATP2A2|0.319412756|26.18%

ATP6V0A2
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 allfamilies BIQ 12 rs7135542
dbSNP Clinvar 		124229429 1108.8 T C PASS 0/1 58 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.79952 0.79950 0.30463 None None None None None None ATP6V0A2|0.124260234|46.77%
View allfamilies BIQ 12 rs1399961
dbSNP Clinvar 		124210782 770.33 T C PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.74980 0.74980 0.36014 None None None None None None ATP6V0A2|0.124260234|46.77%
View allfamilies BIQ 12 rs1139789
dbSNP Clinvar 		124209332 664.403 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.75100 0.75100 0.35338 None None None None None None ATP6V0A2|0.124260234|46.77%

ATXN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs695872
dbSNP Clinvar 		112036929 147.37 G A PASS 0/1 8 SYNONYMOUS_CODING LOW None 0.44429 0.44430 None None None None None None ATXN2|0.872313714|4.16%
View allfamilies BIQ 12 rs695871
dbSNP Clinvar 		112037000 125.81 G C PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.44429 0.44430 0.00 None None None None None None ATXN2|0.872313714|4.16%

ATXN7L3B
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 allfamilies BIQ 12 rs590352
dbSNP Clinvar 		74932159 1903.35 G C PASS 0/1 137 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs2172521
dbSNP Clinvar 		58204283 953.07 T C PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.32 0.00 None None None None None None AVIL|0.110773027|49.04%

AVPR1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs1042615
dbSNP Clinvar 		63544209 220.863 A G PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.65076 0.65080 0.33764 None None None None None None AVPR1A|0.145508661|43.64%

B3GNT4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs4758675
dbSNP Clinvar 		122691738 3230.24 C A PASS 1/1 272 SYNONYMOUS_CODING LOW None 0.99361 0.99360 0.00738 None None None None None None B3GNT4|0.02304241|72.69%

B4GALNT1
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 allfamilies BIQ 12 rs144922627
dbSNP Clinvar 		58022849 315.183 C T PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.00260 0.00260 0.00169 0.00 0.73 None None None None None None B4GALNT1|0.106857873|49.81%

B4GALNT3
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 allfamilies BIQ 12 rs758790
dbSNP Clinvar 		662448 2168.52 T C PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.84724 0.84720 0.26572 None None None None None None B4GALNT3|0.028265322|70.31%
View allfamilies BIQ 12 rs11063529
dbSNP Clinvar 		657404 1225.7 G A PASS 1/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.17951 0.17950 0.21221 0.17 0.07 None None None None None None B4GALNT3|0.028265322|70.31%
View allfamilies BIQ 12 rs7298766
dbSNP Clinvar 		661656 760.748 A G PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.27217 0.27220 0.31424 0.14 0.08 None None None None None None B4GALNT3|0.028265322|70.31%
View allfamilies BIQ 12 rs1056008
dbSNP Clinvar 		662838 147.376 T C PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.28435 0.28430 0.30123 None None None None None None B4GALNT3|0.028265322|70.31%

BAZ2A
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 allfamilies BIQ 12 rs117752378
dbSNP Clinvar 		56996506 144.852 C G PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.00419 0.12 0.40 None None None None None None BAZ2A|0.200947246|36.66%

BCL2L14
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 allfamilies BIQ 12 rs879732
dbSNP Clinvar 		12240199 2886.1 C T PASS 0/1 349 SYNONYMOUS_CODING LOW None 0.46486 0.46490 0.48032 None None None None None None BCL2L14|0.005004666|85.81%
View allfamilies BIQ 12 rs17819796
dbSNP Clinvar 		12240299 679.421 G A PASS 0/1 361 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00177 0.20 0.00 None None None None None None BCL2L14|0.005004666|85.81%

BCL7A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs28629903
dbSNP Clinvar 		122497001 1134.4 T C PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.50539 0.50540 0.49854 None None None None None None BCL7A|0.16853865|40.51%

BEST3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies BIQ 12 rs775429
dbSNP Clinvar 		70091432 680.28 T C PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.97324 0.97320 0.02361 None None None None None None BEST3|0.093001289|52.62%

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 allfamilies BIQ 12 rs34447944
dbSNP Clinvar 		32481369 537.457 C T PASS 0/1 420 SYNONYMOUS_CODING LOW None 0.04633 0.04633 0.06228 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 allfamilies BIQ 12 rs3210837
dbSNP Clinvar 		51685831 288.17 T C PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.78115 0.78120 0.22928 None None None None None None BIN2|0.023359336|72.5%