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+ Genes 516

Genes:
A2M, A2ML1, AAAS, AACS, ABCC9, ABCD2, AC068987.1, AC092850.1, ACACB, ACAD10, ACADS, ADAMTS20, ADCY6, ADIPOR2, AGAP2, AICDA, AKAP3, ALG10B, AMDHD1, AMIGO2, ANHX, ANKLE2, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO4, APOBEC1, APOLD1, AQP2, ARF3, ARHGAP9, ARHGDIB, ARHGEF25, ARNTL2, ART4, ASCL1, ASCL4, ASIC1, ASUN, ATF1, ATF7IP, ATN1, ATP2B1, ATP5G2, ATP6V0A2, ATXN2, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT3, BCL2L14, BEST3, BIN2, BTBD11, C12orf10, C12orf29, C12orf4, C12orf42, C12orf43, C12orf44, C12orf5, C12orf54, C12orf55, C12orf56, C12orf60, C12orf66, C12orf68, C12orf71, C12orf77, C12orf79, C1R, C1RL, C1S, C2CD5, CABP1, CACNA1C, CACNA2D4, CACNB3, CAMKK2, CAND1, CAPRIN2, CASC1, CCDC38, CCDC41, CCDC59, CCDC60, CCDC77, CCDC91, CCDC92, CCND2, CCNT1, CD163, CD163L1, CD27, CD4, CDK2, CELA1, CEP290, CERS5, CHD4, CHFR, CIT, CLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2D, CLEC4A, CLEC4C, CLEC7A, CLEC9A, CLIP1, CLLU1, CLSTN3, CMKLR1, CNTN1, COL2A1, COPS7A, COQ5, CPM, CPSF6, CRADD, CRY1, CSRP2, CTDSP2, CUX2, DAZAP2, DCD, DCP1B, DDN, DDX11, DDX23, DDX51, DDX55, DENND5B, DGKA, DHX37, DIP2B, DNAH10, DNAH10OS, DNM1L, DPPA3, DPY19L2, DTX3, DUSP6, DYRK2, DYRK4, E2F7, EEA1, EFCAB4B, EIF2S3L, EIF4B, EMG1, ERBB3, ERP27, ESPL1, ETV6, FAM109A, FAM186A, FAM90A1, FAR2, FBRSL1, FBXW8, FGD4, FGD6, FGF23, FGF6, FOXM1, FOXN4, FRS2, FZD10, GALNT4, GALNT8, GALNT9, GAS2L3, GCN1L1, GLI1, GLIPR1, GNB3, GNS, GOLGA3, GPD1, GPR133, GPR162, GPR19, GPRC5A, GPRC5D, GRIN2B, GRIP1, GSG1, GTF2H3, GUCY2C, GXYLT1, GYS2, H1FNT, H3F3C, HAL, HCAR3, HDAC7, HECTD4, HELB, HIP1R, HNF1A, HOXC11, HOXC9, HPD, HSP90B1, IFLTD1, IKBIP, IPO8, IQSEC3, IRAK3, ISCU, ITGA5, ITGA7, ITPR2, KANSL2, KCNA1, KCNA5, KCNH3, KCTD10, KDM5A, KERA, KIAA1033, KIAA1467, KIAA1551, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KMT2D, KNTC1, KRAS, KRR1, KRT1, KRT2, KRT3, KRT4, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT86, KSR2, LAG3, LDHB, LEPREL2, LETMD1, LGR5, LPAR5, LRMP, LRP1, LRP6, LRRC23, LRRC43, LRRK2, LTBR, MAGOHB, MANSC1, MANSC4, MARCH9, MDM1, MED13L, MED21, METTL25, MFSD5, MGP, MLF2, MLXIP, MMAB, MMP17, MMP19, MON2, MORN3, MPHOSPH9, MUC19, MUCL1, MVK, MYBPC1, MYO1H, MYRFL, NABP2, NACA, NANOG, NAP1L1, NAV3, NCKAP1L, NCOR2, NELL2, NOS1, NT5DC3, NTF3, NTN4, NUAK1, NXPH4, OASL, OGFOD2, OR10AD1, OR10P1, OR6C1, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C76, OR8S1, ORAI1, OS9, OTOGL, OVCH1, OVCH1-AS1, P2RX2, P2RX4, P2RX7, PAH, PAN2, PARPBP, PAWR, PDE1B, PDE3A, PDZRN4, PFKM, PHB2, PHC1, PHLDA1, PIK3C2G, PIP4K2C, PLA2G1B, PLBD1, PLBD2, PLCZ1, PLEKHG6, PLEKHG7, PLXNC1, PMEL, POLE, POLR3B, POP5, PPFIA2, PPFIBP1, PPHLN1, PPP1R1A, PPTC7, PRB1, PRB2, PRB4, PRH1, PRH2, PRICKLE1, PRIM1, PRMT8, PRR4, PSMD9, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PWP1, PXMP2, PXN, PZP, R3HDM2, RAPGEF3, RASAL1, RBM19, RBMS2, RBP5, REP15, RERG, RERGL, RFX4, RHOF, RILPL1, RIMBP2, RIMKLB, RNFT2, RP1-228P16.5, RP11-1105G2.3, RP11-181C3.1, RPAP3, SART3, SBNO1, SCAF11, SCARB1, SCN8A, SCNN1A, SCYL2, SENP1, SETD1B, SETD8, SFSWAP, SH2B3, SLC11A2, SLC15A4, SLC15A5, SLC26A10, SLC2A14, SLC38A2, SLC38A4, SLC5A8, SLC6A12, SLC6A13, SLC8B1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SOAT2, SP7, SPRYD4, SRGAP1, SSH1, SSPN, ST8SIA1, STAB2, STK38L, STX2, STYK1, SUOX, SYT1, SYT10, TAOK3, TAPBPL, TAS2R10, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R8, TAS2R9, TBC1D15, TBK1, TCP11L2, TCTN2, TDG, TENC1, TESPA1, TIMELESS, TMCC3, TMED2, TMEM106C, TMEM132B, TMEM132C, TMEM132D, TMEM19, TMEM233, TMEM52B, TMPRSS12, TMTC1, TMTC3, TNFRSF1A, TPH2, TRPV4, TSPAN11, TSPAN9, TUBA1C, TXNRD1, UBC, UBE3B, UHRF1BP1L, ULK1, USP15, USP30, USP5, UTP20, VAMP1, VDR, VEZT, VSIG10, VWF, WDR66, WIBG, WIF1, WNK1, YARS2, ZDHHC17, ZFC3H1, ZNF140, ZNF26, ZNF268, ZNF384, ZNF705A, ZNF84,

+ Genes associated with diseases 124

Genes at Omim

A2M, A2ML1, AAAS, ABCC9, ACADS, ADCY6, AICDA, ALG10B, ANKLE2, AQP2, ART4, ASCL1, ATN1, ATP6V0A2, ATXN2, C12orf4, C1R, C1S, CACNA1C, CACNA2D4, CCND2, CD27, CD4, CEP290, CHD4, CIT, CLEC1A, CLEC7A, CNTN1, COL2A1, CRADD, CRY1, CUX2, DDX11, DIP2B, DNM1L, DPY19L2, DUSP6, EMG1, ERBB3, ETV6, FGD4, FGF23, GLI1, GNB3, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, IRAK3, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT4, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MGP, MMAB, MMP19, MVK, MYBPC1, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, PLCZ1, POLE, POLR3B, PRICKLE1, PTPRO, PTPRQ, SCARB1, SCN8A, SCNN1A, SH2B3, SLC11A2, SLCO1B1, SLCO1B3, SP7, SRGAP1, SUOX, SYT1, TBK1, TCTN2, TMTC3, TNFRSF1A, TPH2, TRPV4, UBE3B, VAMP1, VDR, VWF, WDR66, WNK1, 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)
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)
C12orf4 Mental retardation, autosomal recessive 66, 618221 (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)
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)
CLEC7A Candidiasis, familial, 4, autosomal recessive, 613108 (3)
{Aspergillosis, susceptibility to}, 614079 (3)
CNTN1 ?Myopathy, congenital, Compton-North, 612540 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
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)
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)
FGF23 Hypophosphatemic rickets, autosomal dominant, 193100 (3)
Osteomalacia, tumor-induced (1)
Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3)
GLI1 Polydactyly, postaxial, type A8, 618123 (3)
GNB3 {Hypertension, essential, susceptibility to}, 145500 (3)
Night blindness, congenital stationary, type 1H, 617024 (3)
GNS Mucopolysaccharidosis type IIID, 252940 (3)
GPD1 Hypertriglyceridemia, transient infantile, 614480 (3)
GRIN2B Epileptic encephalopathy, early infantile, 27, 616139 (3)
Mental retardation, autosomal dominant 6, 613970 (3)
GRIP1 Fraser syndrome 3, 617667 (3)
GUCY2C Diarrhea 6, 614616 (3)
Meconium ileus, 614665 (3)
GYS2 Glycogen storage disease 0, liver, 240600 (3)
HAL [Histidinemia], 235800 (3)
HNF1A Hepatic adenoma, somatic, 142330 (3)
Diabetes mellitus, insulin-dependent, 20, 612520 (3)
MODY, type III, 600496 (3)
Renal cell carcinoma, 144700 (3)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
HPD Hawkinsinuria, 140350 (3)
Tyrosinemia, type III, 276710 (3)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
ISCU Myopathy with lactic acidosis, hereditary, 255125 (3)
ITGA7 Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)
ITPR2 ?Anhidrosis, isolated, with normal sweat glands, 106190 (3)
KCNA1 Episodic ataxia/myokymia syndrome, 160120 (3)
KCNA5 Atrial fibrillation, familial, 7, 612240 (3)
KERA Cornea plana 2, autosomal recessive, 217300 (3)
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)
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)
MGP Keutel syndrome, 245150 (3)
MMAB Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
MMP19 Cavitary optic disc anomalies, 611543 (3)
MVK Hyper-IgD syndrome, 260920 (3)
Mevalonic aciduria, 610377 (3)
Porokeratosis 3, multiple types, 175900 (3)
MYBPC1 Arthrogryposis, distal, type 1B, 614335 (3)
Lethal congenital contracture syndrome 4, 614915 (3)
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)
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
PRICKLE1 Epilepsy, progressive myoclonic 1B, 612437 (3)
PTPRO Nephrotic syndrome, type 6, 614196 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
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)
SUOX Sulfite oxidase deficiency, 272300 (3)
SYT1 Baker-Gordon syndrome, 618218 (3)
TBK1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (3)
TCTN2 Joubert syndrome 24, 616654 (3)
?Meckel syndrome 8, 613885 (3)
TMTC3 Lissencephaly 8, 617255 (3)
TNFRSF1A {Multiple sclerosis, susceptibility to, 5}, 614810 (3)
Periodic fever, familial, 142680 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
TRPV4 Brachyolmia type 3, 113500 (3)
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
Digital arthropathy-brachydactyly, familial, 606835 (3)
Metatropic dysplasia, 156530 (3)
Parastremmatic dwarfism, 168400 (3)
?Avascular necrosis of femoral head, primary, 2, 617383 (3)
SED, Maroteaux type, 184095 (3)
Scapuloperoneal spinal muscular atrophy, 181405 (3)
Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
[Sodium serum level QTL 1], 613508 (3)
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)
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, ATP6V0A2, ATXN2, C1S, CACNA1C, CACNA2D4, CCND2, CD27, CD4, CEP290, CHD4, CLEC7A, CNTN1, COL2A1, CRADD, DDX11, DIP2B, DNM1L, DPY19L2, DUSP6, EMG1, ERBB3, ETV6, FGD4, FGF23, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIAA1033, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT4, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MGP, MMAB, MMP19, MVK, MYBPC1, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, POLE, POLR3B, PRICKLE1, PTPRO, PTPRQ, SART3, SCN8A, SCNN1A, SLC11A2, SLCO1B1, SLCO1B3, SP7, SUOX, TBK1, TCTN2, TNFRSF1A, TRPV4, UBE3B, VAMP1, VDR, VWF, WNK1, 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
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
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
CLEC7A Candidiasis, familial, 4
CNTN1 Myopathy, congenital, Compton-North
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
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
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
FGF23 Hypophosphatemic rickets, autosomal dominant
Tumoral calcinosis, hyperphosphatemic
GNS Mucopolysaccharidosis IIID (Sanfilippo syndrome D)
GPD1 Hypertriglyceridemia, transient infantile
GRIN2B Mental retardation, autosomal dominant 6
Epileptic encephalopathy, early infantile 27
GRIP1 Fraser syndrome
GUCY2C Diarrhea 6
Meconium ileus
GYS2 Glycogen storage disease, type 0, liver
HAL Histidinemia
HNF1A Renal cell carcinoma, nonpapillary clear cell
Liver adenomatosis
Maturity onset diabetes of the young, type III
HPD Tyrosinemia, type III
Hawksinuria
ISCU Myopathy with lactic acidosis, hereditary
ITGA7 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
ITPR2 Anhidrosis, isolated, with normal sweat glands (Dann-Epstein-Sohar syndrome)
KCNA1 Episodic ataxia, type 1/myokymia syndrome
KCNA5 Atrial fibrillation, familial, 7
KERA Cornea plana 2, autosomal recessive
KIAA1033 Mental retardation, autosomal recessive 43
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
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
MGP Keutel syndrome
MMAB Methylmalonic acidemia, cblB type
MMP19 Cavitary optic disc anomalies
MVK Mevalonic aciduria
Hyper-IgD syndrome
MYBPC1 Arthrogryposis, distal, type 1B
Lethal congenital contractural syndrome 4
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)
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
PRICKLE1 Epilepsy, progressive myoclonic, 1B
PTPRO Nephrotic syndrome, type 6
PTPRQ Deafness, autosomal recessive 84
SART3 Porokeratosis, disseminated superficial actinic, 1
SCN8A Cognitive impairment with or without cerebellar ataxia
Epileptic encephalopathy, early infantile, 13
SCNN1A Pseudohypoaldosteronism, type I
Bronchiectasis with or without elevated sweat chloride 2
SLC11A2 Anemia, hypochromic microcytic, with iron overload
SLCO1B1 Statin-induced myopathy
Hyperbilirubinemia, Rotor type, digenic
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic
SP7 Osteogenesis imperfecta, type XII
SUOX Sulfocysteinuria
TBK1 Herpes simplex encephalitis
TCTN2 Joubert syndrome 24
Meckel syndrome 8
TNFRSF1A Periodic fever, familial (TNF receptor-associated periodic syndrome)
TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive
Brachyolmia type 3
Metatropic dysplasia
Spondyloepiphyseal dysplasia, Maroteaux type
Scapuloperoneal spinal muscular atrophy
Hereditary motor and sensory neuropathy, type Iic
Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Digital arthropathy-brachydactyly, familial
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
YARS2 Myopathy, lactic acidosis, and sideroblastic anemia 2

Genes at HGMD

Summary

Number of Variants: 8622
Number of Genes: 516

Export to: CSV

ATXN7L3B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs590352
dbSNP Clinvar 		74932159 1142.84 G C PASS 1/1 99 SYNONYMOUS_CODING LOW None 0.66933 0.66930 0.37976 None None None None None None ATXN7L3B|0.065423029|58.5%

AVIL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs2172521
dbSNP Clinvar 		58204283 2841.43 T C PASS 1/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.32 0.00 None None None None None None AVIL|0.110773027|49.04%

AVPR1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs1042615
dbSNP Clinvar 		63544209 4320.51 A G PASS 0/1 454 SYNONYMOUS_CODING LOW None 0.65076 0.65080 0.33764 None None None None None None AVPR1A|0.145508661|43.64%

B3GNT4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs4758675
dbSNP Clinvar 		122691738 6929.48 C A PASS 1/1 291 SYNONYMOUS_CODING LOW None 0.99361 0.99360 0.00738 None None None None None None B3GNT4|0.02304241|72.69%
View combined sample_70.variant31 12 rs7136356
dbSNP Clinvar 		122689181 1694.49 C G PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.45487 0.45490 0.35489 0.51 0.00 None None None None None None B3GNT4|0.02304241|72.69%

B4GALNT3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs758790
dbSNP Clinvar 		662448 1118.07 T C PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.84724 0.84720 0.26572 None None None None None None B4GALNT3|0.028265322|70.31%
View combined sample_70.variant31 12 rs1056008
dbSNP Clinvar 		662838 5149.82 T C PASS 0/1 201 SYNONYMOUS_CODING LOW None 0.28435 0.28430 0.30123 None None None None None None B4GALNT3|0.028265322|70.31%
View combined sample_70.variant31 12 rs11063529
dbSNP Clinvar 		657404 5495.49 G A PASS 0/1 163 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 combined sample_70.variant31 12 rs7298766
dbSNP Clinvar 		661656 619.22 A G PASS 0/1 78 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 combined sample_70.variant31 12 rs73592377
dbSNP Clinvar 		658993 4431.29 C T PASS 0/1 321 SYNONYMOUS_CODING LOW None 0.08187 0.08187 0.08196 None None None None None None B4GALNT3|0.028265322|70.31%

BCL2L14
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_70.variant31 12 rs879732
dbSNP Clinvar 		12240199 1128.82 C T PASS 1/1 150 SYNONYMOUS_CODING LOW None 0.46486 0.46490 0.48032 None None None None None None BCL2L14|0.005004666|85.81%

BEST3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs775429
dbSNP Clinvar 		70091432 863.59 T C PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.97324 0.97320 0.02361 None None None None None None BEST3|0.093001289|52.62%

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 combined sample_70.variant31 12 rs7954976
dbSNP Clinvar 		51681903 1988.58 T C PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.83447 0.83450 0.19537 1.00 0.00 None None None None None None BIN2|0.023359336|72.5%
View combined sample_70.variant31 12 rs3210837
dbSNP Clinvar 		51685831 2090.91 T C PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.78115 0.78120 0.22928 None None None None None None BIN2|0.023359336|72.5%

BTBD11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs961498
dbSNP Clinvar 		107713511 1741.77 G C PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.39437 0.39440 0.35926 0.58 0.00 None None None None None None BTBD11|0.286570373|28.6%
View combined sample_70.variant31 12 rs111260184
dbSNP Clinvar 		107713696 1372.2 G A PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.39457 0.39460 0.43067 0.55 0.00 None None None None None None BTBD11|0.286570373|28.6%

C12orf10
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_70.variant31 12 rs1534284
dbSNP Clinvar 		53693532 4791.11 A G PASS 1/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.05984 1.00 0.00 None None None None None None C12orf10|0.308047855|26.99%
View combined sample_70.variant31 12 rs1534283
dbSNP Clinvar 		53693533 4791.11 A C PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.06006 0.21 0.00 None None None None None None C12orf10|0.308047855|26.99%
View combined sample_70.variant31 12 rs711316
dbSNP Clinvar 		53700860 4230.49 A G PASS 1/1 180 NON_SYNONYMOUS_CODING MODERATE None 0.94968 0.94970 0.06020 0.37 0.00 None None None None None None C12orf10|0.308047855|26.99%
View combined sample_70.variant31 12 rs1534282
dbSNP Clinvar 		53700848 4297.18 C T PASS 1/1 194 NON_SYNONYMOUS_CODING MODERATE None 0.96885 0.96880 0.03522 1.00 0.00 None None None None None None C12orf10|0.308047855|26.99%

C12orf29
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs9262
dbSNP Clinvar 		88440676 713.98 G C PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.51058 0.51060 0.46917 1.00 0.00 None None None None None None C12orf29|0.429935486|19.14%

C12orf4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs35924298
dbSNP Clinvar 		4627414 1110.13 C T PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.04752 0.04752 0.08481 None None None None None None C12orf4|0.138164494|44.67%

C12orf42
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs10778257
dbSNP Clinvar 		103872172 1725.54 T G PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.42020 0.35 0.80 None None None None None None C12orf42|0.002743176|89.17%

C12orf43
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_70.variant31 12 rs2258227
dbSNP Clinvar 		121454257 4063.83 T A PASS 1/1 252 START_GAINED LOW None 0.78474 0.78470 0.25142 None None None None None None C12orf43|0.005778578|84.86%

C12orf44
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_70.variant31 12 rs143921343,rs372834432
dbSNP Clinvar 		52467674 3629.75 TG... T PASS 0/1 230 None None None 0.06190 0.06190 0.05803 None None None None None None ATG101|0.248549506|31.66%

C12orf5
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_70.variant31 12 rs7309402
dbSNP Clinvar 		4459032 2084.46 G A PASS 0/1 156 SYNONYMOUS_CODING LOW None 0.27336 0.27340 0.14909 None None None None None None TIGAR|0.017408746|75.62%
View combined sample_70.variant31 12 rs7133330
dbSNP Clinvar 		4461485 3100.42 G A PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.18331 0.18330 0.21498 None None None None None None TIGAR|0.017408746|75.62%

C12orf54
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_70.variant31 12 rs2705127
dbSNP Clinvar 		48883012 964.89 T C PASS 1/1 96 None None None 0.30511 0.30510 0.00 0.30 None None None None None None C12orf54|0.003494999|87.79%
View combined sample_70.variant31 12 rs61940778
dbSNP Clinvar 		48884610 2401.6 C T PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.02436 0.02436 0.05474 0.00 0.14 None None None None None None C12orf54|0.003494999|87.79%
View combined sample_70.variant31 12 rs9268
dbSNP Clinvar 		48888689 1942.23 C G PASS 0/1 215 SYNONYMOUS_CODING LOW None 0.31689 0.31690 0.49124 None None None None None None C12orf54|0.003494999|87.79%

C12orf55
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_70.variant31 12 rs2160501
dbSNP Clinvar 		96927972 921.73 A G PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.36861 0.36860 1.00 0.03 None None None None None None CFAP54|0.043483617|64.67%
View combined sample_70.variant31 12 rs2160502
dbSNP Clinvar 		96927986 565.13 A T PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.37001 0.37000 0.44 0.69 None None None None None None CFAP54|0.043483617|64.67%
View combined sample_70.variant31 12 rs815890
dbSNP Clinvar 		96992494 2740.5 C T PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.69848 0.69850 None None None None None None CFAP54|0.043483617|64.67%
View combined sample_70.variant31 12 rs12372726
dbSNP Clinvar 		97038054 1203.94 G A PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.09804 0.09804 0.05 0.73 None None None None None None CFAP54|0.043483617|64.67%
View combined sample_70.variant31 12 rs74447642
dbSNP Clinvar 		97045481 1071.71 C T PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.07069 0.07069 0.10557 0.44 0.03 None None None None None None CFAP54|0.043483617|64.67%
View combined sample_70.variant31 12 rs7968231
dbSNP Clinvar 		97102578 1939.87 G A PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.91853 0.91850 0.14434 1.00 0.00 None None None None None None CFAP54|0.043483617|64.67%
View combined sample_70.variant31 12 rs1990828
dbSNP Clinvar 		97136239 1039.82 G A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.91234 0.91230 0.15100 0.81 0.00 None None None None None None CFAP54|0.043483617|64.67%

C12orf56
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_70.variant31 12 rs1002392
dbSNP Clinvar 		64669090 296.6 C A PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.62460 0.62460 0.27103 None None None None None None C12orf56|0.034622904|67.57%
View combined sample_70.variant31 12 rs7955105
dbSNP Clinvar 		64712511 5634.02 A G PASS 1/1 160 SYNONYMOUS_CODING LOW None 0.98542 0.98540 0.01555 None None None None None None C12orf56|0.034622904|67.57%
View combined sample_70.variant31 12 rs113411861
dbSNP Clinvar 		64712546 6441.86 A AGTT PASS 0/1 172 CODON_INSERTION MODERATE None 0.43810 0.43810 0.45456 None None None None None None C12orf56|0.034622904|67.57%

C12orf60
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_70.variant31 12 rs17761825
dbSNP Clinvar 		14976553 1462.96 G C PASS 0/1 158 SYNONYMOUS_CODING LOW None 0.10503 0.10500 0.15143 None None None None None None C12orf60|0.003562818|87.67%
View combined sample_70.variant31 12 rs7304054
dbSNP Clinvar 		14976063 782.78 A G PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.19030 0.19030 0.18914 0.28 0.01 None None None None None None C12orf60|0.003562818|87.67%
View combined sample_70.variant31 12 rs7307438
dbSNP Clinvar 		14976178 1312.17 T A PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.19030 0.19030 0.18907 0.03 0.73 None None None None None None C12orf60|0.003562818|87.67%
View combined sample_70.variant31 12 rs139293175,rs10556010
dbSNP Clinvar 		14976417 1192.29 CTA C PASS 0/1 67 FRAME_SHIFT HIGH None 0.19010 0.19010 0.19048 None None None None None None C12orf60|0.003562818|87.67%

C12orf66
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_70.variant31 12 rs699638
dbSNP Clinvar 		64587633 8801.88 C A PASS 1/1 248 NON_SYNONYMOUS_CODING MODERATE None 0.99581 0.99580 0.00648 1.00 0.00 None None None None None None C12orf66|0.258762453|30.85%
View combined sample_70.variant31 12 rs2335390
dbSNP Clinvar 		64609562 3002.27 C T PASS 1/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.98602 0.98600 0.01437 0.55 0.00 None None None None None None C12orf66|0.258762453|30.85%

C12orf68
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_70.variant31 12 rs10783231
dbSNP Clinvar 		48578325 3350.3 A C PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.59465 0.59460 0.25485 1.00 0.00 None None None None None None CCDC184|0.166899612|40.69%

C12orf71
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_70.variant31 12 rs61741737
dbSNP Clinvar 		27234914 1350.62 G A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.17672 0.17670 0.16416 0.09 0.04 None None None None None None C12orf71|0.001090614|94.97%

C12orf77
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_70.variant31 12 rs864161
dbSNP Clinvar 		25148755 7920.42 C G,A PASS 1/1 279 NON_SYNONYMOUS_CODING MODERATE None 0.01298 0.01298 0.03616 1.00 0.00 None None None None None None C12orf77|0.000505571|98.4%

C12orf79
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_70.variant31 12 rs61744626
dbSNP Clinvar 		92380427 1553.64 G A PASS 0/1 144 None None None 0.01178 0.01178 0.00 0.00 None None None None None None C12orf79|0.000942594|95.83%

C1R
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_70.variant31 12 rs75380747
dbSNP Clinvar 		7188562 2045.97 G T PASS 0/1 171 SYNONYMOUS_CODING LOW None 0.06170 0.06170 0.03618 None None None None None None C1R|0.049076278|62.95%
View combined sample_70.variant31 12 rs1801046
dbSNP Clinvar 		7242299 1862.24 G A PASS 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.23922 0.23920 0.21023 0.17 0.01 None None None None None None C1R|0.049076278|62.95%,C1RL|0.007626505|82.93%

C1RL
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_70.variant31 12 rs34879108
dbSNP Clinvar 		7246403 1262.42 C T PASS 0/1 132 None None None 0.02716 0.02716 None None None None None None C1RL|0.007626505|82.93%
View combined sample_70.variant31 12 rs34796296
dbSNP Clinvar 		7252506 1597.1 C T PASS 0/1 210 NON_SYNONYMOUS_CODING MODERATE None 0.02716 0.02716 0.05467 0.35 0.13 None None None None None None C1RL|0.007626505|82.93%

C1S
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_70.variant31 12 rs7965055
dbSNP Clinvar 		7171620 839.55 C T PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.09085 0.09085 0.10042 None None None None None None C1S|0.111683648|48.9%
View combined sample_70.variant31 12 rs1143664
dbSNP Clinvar 		7175047 1111.94 A G PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.09605 0.09605 0.10649 None None None None None None C1S|0.111683648|48.9%

C2CD5
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_70.variant31 12 rs2063573
dbSNP Clinvar 		22602796 1444.73 A G PASS 1/1 136 SYNONYMOUS_CODING LOW None 0.66613 0.66610 0.12241 None None None None None None C2CD5|0.483387867|16.57%

CABP1
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_70.variant31 12 rs112935060,rs74906883
dbSNP Clinvar 		121093629 770.5 CG... C PASS 0/1 101 None None None None None None None None None CABP1|0.265777174|30.19%

CACNA1C
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_70.variant31 12 rs1051375
dbSNP Clinvar 		2788879 6023.87 G A PASS 0/1 360 SYNONYMOUS_CODING LOW None 0.52636 0.52640 0.41888 None None None None None None CACNA1C|0.702781937|8.42%
View combined sample_70.variant31 12 rs10848683
dbSNP Clinvar 		2791130 871.77 C T PASS 0/1 48 None None None 0.66913 0.66910 0.27524 0.25 0.00 None None None None None None CACNA1C|0.702781937|8.42%
View combined sample_70.variant31 12 rs10774053
dbSNP Clinvar 		2791132 871.77 A G PASS 0/1 50 None None None 0.77057 0.77060 0.18039 0.50 0.00 None None None None None None CACNA1C|0.702781937|8.42%
View combined sample_70.variant31 12 rs10774054
dbSNP Clinvar 		2791205 2170.15 A G PASS 1/1 102 None None None 1.00000 1.00000 0.00019 1.00 0.00 None None None None None None CACNA1C|0.702781937|8.42%

CACNA2D4
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_70.variant31 12 rs79680317
dbSNP Clinvar 		1987605 1189.76 C T PASS 0/1 79 None None None 0.06350 0.06350 0.05165 0.03 0.00 None None None None None None CACNA2D4|0.041118037|65.41%
View combined sample_70.variant31 12 rs60945277
dbSNP Clinvar 		1989018 1659.88 T C PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.23123 0.23120 0.22349 None None None None None None CACNA2D4|0.041118037|65.41%
View combined sample_70.variant31 12 rs10735005
dbSNP Clinvar 		1995403 1872.19 T C PASS 0/1 155 NON_SYNONYMOUS_CODING MODERATE None 0.93710 0.93710 0.08353 1.00 0.00 None None None None None None CACNA2D4|0.041118037|65.41%

CACNB3
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_70.variant31 12 rs1045340
dbSNP Clinvar 		49221622 4138.63 G A PASS 1/1 277 SYNONYMOUS_CODING LOW None 0.43211 0.43210 0.41712 None None None None None None CACNB3|0.375624906|22.36%

CAMKK2
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_70.variant31 12 rs761569371
dbSNP Clinvar 		121678327 1409.48 CT CT... PASS 0/4 148 None None None None None None None None None CAMKK2|0.180647161|38.95%
View combined sample_70.variant31 12 rs3817190
dbSNP Clinvar 		121712077 2106.83 T A PASS 0/1 275 NON_SYNONYMOUS_CODING MODERATE None 0.41174 0.41170 0.46230 0.74 0.00 None None None None None None CAMKK2|0.180647161|38.95%

CAND1
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_70.variant31 12 rs17781675
dbSNP Clinvar 		67699536 848.42 G A PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.02736 0.02736 0.04444 None None None None None None CAND1|0.449221589|18.18%

CAPRIN2
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_70.variant31 12 rs13656
dbSNP Clinvar 		30868002 3187.76 C T PASS 0/1 140 SYNONYMOUS_CODING LOW None 0.59605 0.59600 0.32347 None None None None None None CAPRIN2|0.205461229|36.08%
View combined sample_70.variant31 12 rs2304630
dbSNP Clinvar 		30881809 5286.49 T C PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.55531 0.55530 0.34000 1.00 0.00 None None None None None None CAPRIN2|0.205461229|36.08%

CASC1
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_70.variant31 12 rs859146
dbSNP Clinvar 		25261735 1339.11 G T PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00138 1.00 0.00 None None None None None None CASC1|0.00634345|84.23%

CCDC38
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_70.variant31 12 rs7960706
dbSNP Clinvar 		96260947 967.49 A G PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.31430 0.31430 0.36398 None None None None None None SNRPF|0.684587962|8.96%,CCDC38|0.005707397|84.96%
View combined sample_70.variant31 12 rs6538681
dbSNP Clinvar 		96284650 716.44 A G PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.75439 0.75440 0.23804 None None None None None None SNRPF|0.684587962|8.96%,CCDC38|0.005707397|84.96%
View combined sample_70.variant31 12 rs10859974
dbSNP Clinvar 		96288860 1225.95 T C PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.24521 0.24520 0.20639 0.11 0.00 None None None None None None SNRPF|0.684587962|8.96%,CCDC38|0.005707397|84.96%
View combined sample_70.variant31 12 rs2117914
dbSNP Clinvar 		96266035 1415.11 T C PASS 0/1 85 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14457 0.14460 0.18976 None None None None None None SNRPF|0.684587962|8.96%,CCDC38|0.005707397|84.96%

CCDC41
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_70.variant31 12 rs4761611
dbSNP Clinvar 		94769758 533.86 A G PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.83367 0.83370 0.26544 None None None None None None CEP83|0.340987399|24.79%
View combined sample_70.variant31 12 rs148769208
dbSNP Clinvar 		94796955 740.01 A G PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.00439 0.00439 0.00820 None None None None None None CEP83|0.340987399|24.79%

CCDC59
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_70.variant31 12 rs143136847
dbSNP Clinvar 		82748339 457.16 T G PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.00385 0.00 0.99 None None None None None None CCDC59|0.026368242|71.17%

CCDC60
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_70.variant31 12 rs1064319
dbSNP Clinvar 		119866533 742.81 A G PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.25320 0.25320 0.29479 0.07 0.03 None None None None None None CCDC60|0.005804597|84.82%
View combined sample_70.variant31 12 rs2293495
dbSNP Clinvar 		119871266 1462.25 C T PASS 0/1 120 None None None 0.07608 0.07608 None None None None None None CCDC60|0.005804597|84.82%
View combined sample_70.variant31 12 rs1716471
dbSNP Clinvar 		119871387 1176.41 A G PASS 0/1 113 None None None 0.63578 0.63580 0.00 None None None None None None CCDC60|0.005804597|84.82%

CCDC77
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_70.variant31 12 rs735295
dbSNP Clinvar 		547683 617.21 T C PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.32288 0.32290 0.27195 0.57 0.00 None None None None None None CCDC77|0.055296478|61.11%

CCDC91
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_70.variant31 12 rs10771427
dbSNP Clinvar 		28605426 501.16 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.66913 0.66910 0.21625 0.73 0.00 None None None None None None CCDC91|0.271839478|29.76%

CCDC92
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_70.variant31 12 rs11057401
dbSNP Clinvar 		124427306 1335.14 T A PASS 1/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.25040 0.25040 0.31447 0.01 0.92 None None None None None None CCDC92|0.031552861|68.78%

CCND2
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_70.variant31 12 rs3217805
dbSNP Clinvar 		4388084 949.42 C G PASS 0/1 151 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.32631 None None None None None None CCND2|0.94794487|2.32%

CCNT1
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_70.variant31 12 rs3741632
dbSNP Clinvar 		49086963 1713.88 G A PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.59405 0.59400 0.45487 None None None None None None CCNT1|0.315648656|26.38%
View combined sample_70.variant31 12 rs3013
dbSNP Clinvar 		49087656 1505.88 G C PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.12320 0.12320 0.25019 None None None None None None CCNT1|0.315648656|26.38%

CD163
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_70.variant31 12 rs7980201
dbSNP Clinvar 		7640589 1847.12 C T PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.05751 0.05751 0.06659 None None None None None None CD163|0.027542132|70.64%
View combined sample_70.variant31 12 rs4883264
dbSNP Clinvar 		7649653 2198.32 T C PASS 1/1 177 SYNONYMOUS_CODING LOW None 0.48123 0.48120 0.42065 -1.69 0.00 0.05203 T None None None None CD163|0.027542132|70.64%
View combined sample_70.variant31 12 rs3210140
dbSNP Clinvar 		7655137 957.02 A G PASS 1/1 112 SYNONYMOUS_CODING LOW None 0.46206 0.46210 0.44700 None None None None None None CD163|0.027542132|70.64%
View combined sample_70.variant31 12 rs4883263
dbSNP Clinvar 		7649484 1786.56 T C PASS 1/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.76258 0.76260 0.14786 0.22 0.00 None None None None None None CD163|0.027542132|70.64%
View combined sample_70.variant31 12 rs61729512
dbSNP Clinvar 		7637769 2066.95 G A PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.11322 0.11320 0.09065 0.01 0.09 None None None None None None CD163|0.027542132|70.64%

CD163L1
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_70.variant31 12 rs6488268
dbSNP Clinvar 		7551022 5021.99 A T PASS 1/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.99381 0.99380 0.00869 0.09 0.65 None None None None None None CD163L1|0.000596988|97.96%
View combined sample_70.variant31 12 rs6488269
dbSNP Clinvar 		7551050 5321.5 A C PASS 1/1 172 SYNONYMOUS_CODING LOW None 0.99381 0.99380 0.00861 None None None None None None CD163L1|0.000596988|97.96%
View combined sample_70.variant31 12 rs10845159
dbSNP Clinvar 		7585971 2474.7 A G PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.28694 0.28690 0.40189 None None None None None None CD163L1|0.000596988|97.96%
View combined sample_70.variant31 12 rs36206713
dbSNP Clinvar 		7527284 3116.49 C T PASS 0/1 323 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.00623 0.01 0.98 None None None None None None CD163L1|0.000596988|97.96%

CD27
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_70.variant31 12 rs2532502
dbSNP Clinvar 		6560473 944.5 A G PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.99740 0.99740 0.00830 0.03 0.00 None None None None None None CD27|0.035604042|67.27%

CD4
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_70.variant31 12 rs1055141
dbSNP Clinvar 		6926363 1455.25 T C PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.74681 0.74680 0.38921 None None None None None None CD4|0.927516418|2.81%
View combined sample_70.variant31 12 rs12821756
dbSNP Clinvar 		6928075 250.82 T C PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.75619 0.75620 0.37981 None None None None None None CD4|0.927516418|2.81%