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+ Genes 440

Genes:
AADAT, AASDH, ABLIM2, AC021860.1, AC068620.1, AC079341.1, AC093323.1, AC093677.1, AC097381.1, ACOX3, ACSL1, ADAMTS3, ADH1B, ADH1C, ADH4, ADH5, ADH6, AFAP1, AFM, AFP, AGA, ALB, ALPK1, AMBN, AMTN, ANK2, ANKRD17, ANKRD37, ANKRD50, ANTXR2, ANXA10, AP001816.1, APBB2, ARAP2, ARHGAP10, ARHGAP24, ARHGEF38, ARSJ, ASB5, ASIC5, ATP10D, ATP8A1, BANK1, BBS12, BMP2K, BMP3, BOD1L1, BST1, BTC, C4orf17, C4orf19, C4orf21, C4orf22, C4orf27, C4orf32, C4orf33, C4orf36, C4orf45, C4orf48, C4orf50, CABS1, CBR4, CC2D2A, CCDC109B, CCDC110, CCDC158, CCDC96, CCNA2, CCNG2, CCNI, CD38, CDS1, CEP44, CFI, CHRNA9, CLCN3, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNOT6L, COL25A1, COQ2, CORIN, COX18, CPE, CPEB2, CPZ, CRIPAK, CRMP1, CSN1S1, CSN2, CSN3, CWH43, CXCL1, CXCL5, CYP4V2, CYTL1, DAPP1, DCAF4L1, DCHS2, DCLK2, DCTD, DCUN1D4, DDIT4L, DDX60, DDX60L, DGKQ, DKK2, DMP1, DOK7, DRD5, DSPP, DTHD1, EDNRA, EGF, ELF2, ENAM, ENOPH1, ENPEP, ENPP6, EPHA5, EREG, ERVMER34-1, ETFDH, EVC, EVC2, EXOC1, F11, FABP2, FAM114A1, FAM149A, FAM160A1, FAM175A, FAM184B, FAM198B, FAM200B, FAM218A, FAM47E, FAM53A, FAT1, FAT4, FBXL5, FBXO8, FGB, FGF5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FHDC1, FRAS1, FREM3, FRG1, FRYL, FSTL5, GAB1, GABRA2, GABRB1, GABRG1, GAK, GALNTL6, GAR1, GBA3, GC, GLRA3, GLRB, GPR125, GPR78, GPRIN3, GRID2, GRK4, GRSF1, GRXCR1, GSX2, GUCY1A3, GUCY1B3, GUF1, GYPB, HADH, HAUS3, HELQ, HERC3, HERC5, HERC6, HGFAC, HMX1, HOPX, HPSE, HSD17B11, HTN3, HTT, IBSP, IDUA, IL21, ING2, INPP4B, INTS12, INTU, KCNIP4, KDR, KIAA0922, KIAA1109, KIAA1211, KIAA1239, KIAA1430, KIT, KLB, KLF3, KLHL2, KLHL5, KLKB1, LAP3, LARP1B, LCORL, LDB2, LETM1, LGI2, LIAS, LIMCH1, LIN54, LINC00955, LNX1, LPHN3, LRBA, LRIT3, LRP2BP, LYAR, MAEA, MAML3, MAN2B2, MANBA, MED28, MEPE, MMRN1, MND1, MTTP, MXD4, MYL5, N4BP2, NAAA, NAF1, NCAPG, NDNF, NDST3, NDST4, NEIL3, NEK1, NEUROG2, NFKB1, NFXL1, NKX1-1, NKX3-2, NOA1, NPNT, NPY5R, NR3C2, NSUN7, NUDT6, NUP54, ODAM, OTOP1, PABPC4L, PALLD, PAPSS1, PARM1, PCDH10, PCDH18, PCGF3, PDE5A, PDE6B, PDGFRA, PDLIM3, PDLIM5, PDS5A, PHOX2B, PI4K2B, PIGG, PKD2, PLK4, PLRG1, POLN, POLR2B, POU4F2, PPA2, PPARGC1A, PPAT, PPEF2, PPP2R2C, PPP3CA, PRDM5, PRDM8, PRIMPOL, PRKG2, PRMT10, PROM1, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, QDPR, QRFPR, RAPGEF2, RBM46, RBM47, RBPJ, RFC1, RGS12, RNF175, RNF212, RP11-171N4.2, RP11-455G16.1, RP11-503N18.3, RP11-62N21.1, RP11-763F8.1, RP11-766F14.2, RPL9, RWDD4, RXFP1, S100P, SCD5, SCFD2, SCLT1, SCOC, SDAD1, SEC24B, SEC24D, SEC31A, SEL1L3, SETD7, SFRP2, SH3BP2, SH3TC1, SHROOM3, SLBP, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC4A4, SLC7A11, SLC9B1, SLIT2, SMARCA5, SMARCAD1, SMR3A, SOD3, SORCS2, SOWAHB, SPARCL1, SPATA4, SPOCK3, SPON2, SPP1, STAP1, STIM2, STOX2, STPG2, STX18, SULT1B1, SYNPO2, TACC3, TAPT1, TBC1D1, TBC1D19, TBC1D9, TBCK, TDO2, TEC, TECRL, TENM3, TET2, THAP6, THAP9, TIFA, TIGD2, TIGD4, TLL1, TLR1, TLR10, TLR3, TLR6, TMEM128, TMEM129, TMEM150C, TMEM155, TMEM156, TMEM165, TMEM175, TMEM192, TMPRSS11A, TMPRSS11B, TMPRSS11BNL, TMPRSS11E, TMPRSS11F, TNIP2, TRAPPC11, TRIM2, TRIML1, TRIML2, TRMT44, TRPC3, TTC29, TXK, UBA6, UCHL1, UCP1, UFSP2, UGDH, UGT2A1, UGT2A3, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP38, USP53, UVSSA, WDFY3, WDR1, WDR17, WDR19, WFS1, WHSC1, WWC2, YTHDC1, ZAR1, ZBTB49, ZFP42, ZFYVE28, ZNF518B, ZNF721,

+ Genes associated with diseases 109

Genes at Omim

ADAMTS3, ADH1B, ADH1C, AFP, AGA, ALB, AMBN, AMTN, ANK2, ANTXR2, BBS12, CC2D2A, CFI, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DRD5, DSPP, EDNRA, EGF, ENAM, ETFDH, EVC, EVC2, F11, FAT4, FGB, FGF5, FGFR3, FRAS1, GAB1, GABRA2, GABRB1, GLRB, GRID2, GRXCR1, GUCY1A3, GUF1, GYPB, HMX1, HTT, IDUA, IL21, INTU, KDR, KIAA1109, KIT, KLKB1, LIAS, LRBA, LRIT3, MANBA, MTTP, NEK1, NFKB1, NKX3-2, NR3C2, PALLD, PDE6B, PDGFRA, PHOX2B, PIGG, PKD2, PLK4, PPA2, PPP3CA, PRDM5, PRDM8, PROM1, PRSS12, QDPR, RAPGEF2, RBPJ, RNF212, SEC24D, SH3BP2, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC4A4, SMARCAD1, SOD3, TAPT1, TBCK, TDO2, TEC, TECRL, TENM3, TET2, TLL1, TLR1, TLR3, TMEM165, TRAPPC11, TRIM2, TRPC3, UCHL1, UCP1, UFSP2, UGT2B17, UVSSA, WDFY3, WDR19, WFS1,
ADAMTS3 ?Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3)
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
AFP Alpha-fetoprotein deficiency, 615969 (3)
[Hereditary persistence of alpha-fetoprotein], 615970 (3)
AGA Aspartylglucosaminuria, 208400 (3)
ALB Analbuminemia, 616000 (3)
[Dysalbuminemic hyperthyroxinemia], 615999 (3)
AMBN Amelogenesis imperfecta, type IF, 616270 (3)
AMTN ?Amelogenesis imperfecta, type IIIB, 617607 (3)
ANK2 Cardiac arrhythmia, ankyrin-B-related, 600919 (3)
Long QT syndrome 4, 600919 (3)
ANTXR2 Hyaline fibromatosis syndrome, 228600 (3)
BBS12 Bardet-Biedl syndrome 12, 615989 (3)
CC2D2A COACH syndrome, 216360 (3)
Joubert syndrome 9, 612285 (3)
Meckel syndrome 6, 612284 (3)
CFI {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
{Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
Complement factor I deficiency, 610984 (3)
COL25A1 Fibrosis of extraocular muscles, congenital, 5, 616219 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
CORIN Preeclampsia/eclampsia 5, 614595 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
DMP1 Hypophosphatemic rickets, AR, 241520 (3)
DOK7 ?Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 10, 254300 (3)
DRD5 {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)
{Blepharospasm, primary benign}, 606798 (3)
DSPP Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3)
Dentin dysplasia, type II, 125420 (3)
Dentinogenesis imperfecta, Shields type II, 125490 (3)
Dentinogenesis imperfecta, Shields type III, 125500 (3)
EDNRA {Migraine, resistance to}, 157300 (3)
Mandibulofacial dysostosis with alopecia, 616367 (3)
EGF Hypomagnesemia 4, renal, 611718 (3)
ENAM Amelogenesis imperfecta, type IB, 104500 (3)
Amelogenesis imperfecta, type IC, 204650 (3)
ETFDH Glutaric acidemia IIC, 231680 (3)
EVC Ellis-van Creveld syndrome, 225500 (3)
?Weyers acrofacial dysostosis, 193530 (3)
EVC2 Ellis-van Creveld syndrome, 225500 (3)
Weyers acrofacial dysostosis, 193530 (3)
F11 Factor XI deficiency, autosomal dominant, 612416 (3)
Factor XI deficiency, autosomal recessive, 612416 (3)
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Van Maldergem syndrome 2, 615546 (3)
FGB Afibrinogenemia, congenital, 202400 (3)
Hypofibrinogenemia, congenital, 202400 (3)
Dysfibrinogenemia, congenital, 616004 (3)
FGF5 Trichomegaly, 190330 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FRAS1 Fraser syndrome 1, 219000 (3)
GAB1 ?Deafness, autosomal recessive 26, 605428 (3)
GABRA2 {Alcohol dependence, susceptibility to}, 103780 (3)
GABRB1 Epileptic encephalopathy, early infantile, 45, 617153 (3)
GLRB Hyperekplexia 2, 614619 (3)
GRID2 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)
GRXCR1 Deafness, autosomal recessive 25, 613285 (3)
GUCY1A3 Moyamoya 6 with achalasia, 615750 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
GYPB {Malaria, resistance to}, 611162 (3)
[Blood group, Ss], 111740 (3)
HMX1 Oculoauricular syndrome, 612109 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IDUA Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
IL21 ?Immunodeficiency, common variable, 11, 615767 (3)
INTU ?Orofaciodigital syndrome XVII, 617926 (3)
?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3)
KDR {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
Hemangioma, capillary infantile, somatic, 602089 (3)
KIAA1109 Alkuraya-Kucinskas syndrome, 617822 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, somatic, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mastocytosis, cutaneous, 154800 (3)
Mastocytosis, systemic, somatic, 154800 (3)
Piebaldism, 172800 (3)
KLKB1 Fletcher factor (prekallikrein) deficiency, 612423 (3)
LIAS Hyperglycinemia, lactic acidosis, and seizures, 614462 (3)
LRBA Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
MANBA Mannosidosis, beta, 248510 (3)
MTTP Abetalipoproteinemia, 200100 (3)
{Metabolic syndrome, protection against}, 605552 (3)
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3)
NFKB1 Immunodeficiency, common variable, 12, 616576 (3)
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
PALLD {Pancreatic cancer, susceptibility to, 1}, 606856 (3)
PDE6B Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
Retinitis pigmentosa-40, 613801 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PHOX2B Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)
{Neuroblastoma, susceptibility to, 2}, 613013 (3)
Neuroblastoma with Hirschsprung disease, 613013 (3)
PIGG Mental retardation, autosomal recessive 53, 616917 (3)
PKD2 Polycystic kidney disease 2, 613095 (3)
PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)
PPA2 ?Sudden cardiac failure, alcohol-induced, 617223 (3)
Sudden cardiac failure, infantile, 617222 (3)
PPP3CA Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265 (3)
Epileptic encephalopathy, infantile or early childhood, 1, 617711 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)
PRDM8 ?Epilepsy, progressive myoclonic, 10, 616640 (3)
PROM1 Cone-rod dystrophy 12, 612657 (3)
Macular dystrophy, retinal, 2, 608051 (3)
Retinitis pigmentosa 41, 612095 (3)
Stargardt disease 4, 603786 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
QDPR Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
RAPGEF2 ?Epilepsy, familial adult myoclonic, 7, 618075 (3)
RBPJ Adams-Oliver syndrome 3, 614814 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SEC24D Cole-Carpenter syndrome 2, 616294 (3)
SH3BP2 Cherubism, 118400 (3)
SLC26A1 ?Nephrolithiasis, calcium oxalate, 167030 (3)
SLC2A9 Hypouricemia, renal, 2, 612076 (3)
{Uric acid concentration, serum, QTL 2}, 612076 (3)
SLC30A9 ?Birk-Landau-Perez syndrome, 617595 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC39A8 Congenital disorder of glycosylation, type IIn, 616721 (3)
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
Basan syndrome, 129200 (3)
Huriez syndrome, 181600 (3)
SOD3 [Superoxide dismutase, elevated extracellular] (3)
TAPT1 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3)
TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)
TDO2 [?Hypertryptophanemia], 600627 (3)
TEC Transient erythroblastopenia of childhood (2)
TECRL Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TET2 Myelodysplastic syndrome, somatic, 614286 (3)
TLL1 Atrial septal defect 6, 613087 (3)
TLR1 {Leprosy, protection against}, 613223 (3)
{Leprosy, susceptibility to, 5}, 613223 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TMEM165 Congenital disorder of glycosylation, type IIk, 614727 (3)
TRAPPC11 Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3)
TRIM2 Charcot-Marie-Tooth disease, type 2R, 615490 (3)
TRPC3 ?Spinocerebellar ataxia 41, 616410 (3)
UCHL1 Spastic paraplegia 79, autosomal recessive, 615491 (3)
{?Parkinson disease 5, susceptibility to}, 613643 (3)
UCP1 {Obesity, susceptibility to}, 601665 (3)
UFSP2 ?Hip dysplasia, Beukes type, 142669 (3)
?Spondyloepimetaphyseal dysplasia, Di Rocco type, 617974 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
WDFY3 ?Microcephaly 18, primary, autosomal dominant, 617520 (3)
WDR19 Nephronophthisis 13, 614377 (3)
?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Senior-Loken syndrome 8, 616307 (3)
WFS1 Deafness, autosomal dominant 6/14/38, 600965 (3)
?Cataract 41, 116400 (3)
Wolfram syndrome 1, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)

Genes at Clinical Genomics Database

AFP, AGA, ALB, AMBN, ANK2, ANTXR2, BBS12, CC2D2A, CFI, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DSPP, EDNRA, EGF, ENAM, ETFDH, EVC, EVC2, F11, FAT4, FGB, FGF5, FGFR3, FRAS1, GLRB, GRID2, GRXCR1, GUCY1A3, GYPB, HADH, HMX1, HTT, IDUA, IL21, KIT, KLKB1, LIAS, LRBA, LRIT3, MANBA, MTTP, NEK1, NFKB1, NKX3-2, NR3C2, ODAM, PDE6B, PDGFRA, PHOX2B, PIGG, PKD2, PLK4, PRDM5, PRDM8, PRIMPOL, PROM1, PRSS12, QDPR, RBPJ, SH3BP2, SLC2A9, SLC34A2, SLC39A8, SLC4A4, SMARCAD1, TENM3, TLL1, TLR3, TMEM165, TRAPPC11, TRIM2, TRPC3, UCHL1, UFSP2, UVSSA, WDR19, WFS1,
AFP AFP deficiency, congenital
Hereditary persistence of AFP
AGA Aspartylglucosaminuria
ALB Dysalbuminemic hyperthyroxinemia
Analbuminemia
AMBN Amelogenesis imperfecta type IF
ANK2 Long QT syndrome, 4
Cardiac arrhythmia, ankyrin-B-related
ANTXR2 Hyalinosis, infantile systemic
Fibromatosis, juveline hyaline
BBS12 Bardet-Biedl syndrome 12
CC2D2A Joubert syndrome 9
Meckel syndrome 6
COACH syndrome
CFI Hemolytic uremic syndrome, atypical
Complement factor I deficiency
COL25A1 Fibrosis of extraocular muscles, congenital 5
COQ2 Coenzyme Q10 deficiency 1
CORIN Preeclampsia/eclampsia 5
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
DMP1 Hypophosphatemic rickets, autosomal recessive 1
DOK7 Myasthenic syndrome, congenital 10
DSPP Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
EDNRA Mandibulofacial dysostosis with alopecia
EGF Hypomagnesemia 4, renal
ENAM Amelogenesis imperfecta, type IB
Amelogenesis imperfecta, type IC
ETFDH Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
EVC Ellis-van Creveld syndrome
Weyers acrofacial dysostosis
EVC2 Ellis-van Creveld syndrome
Weyers acrodental dysostosis
F11 Factor XI deficiency
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2
FGB Afibrinogenemia, congenital
Dysfibrinogenemia, congenital
Hypodysfibrinogenemia, congenital
FGF5 Trichomegaly
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
FRAS1 Fraser syndrome
GLRB Hyperekplexia 2
GRID2 Spinocerebellar ataxia, autosomal recessive 18
GRXCR1 Deafness, autosomal recessive 25
GUCY1A3 Moyamoya disease 6 with achalasia
GYPB Blood group, Ss
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
HMX1 Oculoauricular syndrome
HTT Huntington disease
IDUA Mucopolysaccharidosis type I
IL21 Immunodeficiency, common variable, 11
KIT Gastrointestinal stromal tumor
KLKB1 Prekallikrein deficiency
LIAS Pyruvate dehydrogensae lipoic acid synthetase deficiency
LRBA Common variable immunodeficiency 8, with autoimmunity
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive
MANBA Mannosidosis, beta A, lysosomal
MTTP Abetalipoproteinemia
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly
NFKB1 Immunodeficiency, common variable, 12
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia
NR3C2 Pseudohypoaldosteronism type I, autosomal dominant
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
ODAM Amelogenesis imperfecta, hypomaturation type, IIA4
PDE6B Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa 40
PDGFRA Gastrointestinal stromal tumor
PHOX2B Central hypoventilation syndrome, congenital
Neuroblastoma with Hirschsprung disease
Neuroblastoma, susceptiblity to, 2
PIGG Mental retardation, autosomal recessive 53
PKD2 Polycystic kidney disease 2
PLK4 Microcephaly and chorioretinopathy, autosomal recessive 2
PRDM5 Brittle cornea syndrome 2
PRDM8 Epilepsy, progressive myoclonic, 10
PRIMPOL Myopia 22, autosomal dominant
PROM1 Cone-rod dystrophy 12
Macular dystrophy, retinal, 2
Stargardt disease 4
Retinitis pigmentosa 41
PRSS12 Mental retardation, autosomal recessive 1
QDPR Hyperphenylalaninemia, BH4-deficient, C
RBPJ Adams-Oliver syndrome 3
SH3BP2 Cherubism
SLC2A9 Hypouricemia, renal, 2
SLC34A2 Pulmonary alveolar microlithiasis
SLC39A8 Congenital disorder of glycosylation, type IIn
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
SMARCAD1 Adermatoglyphia
TENM3 Microphthalmia, isolated, with coloboma 9
TLL1 Atrial septal defect 6
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TMEM165 Congenital disorder of glycosylation, type IIk
TRAPPC11 Limb-girdle muscular dystrophy, type 2S
TRIM2 Charcot-Marie-Tooth disease, axonal, type 2R
TRPC3 Spinocerebellar ataxia 41
UCHL1 Parkinson disease 5, autosomal dominant
Neurodegeneration with optic atropy, childhood-onset
UFSP2 Hip dysplasia, Beukes type
UVSSA UV-sensitive syndrome 3
WDR19 Short-rib thoracic dysplasia 5 with or without polydactyly
Cranioectodermal dysplasia 4
Nephronophthisis 13
Retinitis pigmentosa
Senior-Loken syndrome 8
WFS1 Wolfram syndrome

Genes at HGMD

Summary

Number of Variants: 15080
Number of Genes: 440

Export to: CSV
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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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999982
dbSNP Clinvar 		122776933 136.11 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.81270 0.81270 None None None None None None BBS7|0.399631131|20.8%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999956
dbSNP Clinvar 		15725102 645.49 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.26877 0.26880 None None None None None None BST1|0.03152246|68.79%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999946
dbSNP Clinvar 		182871169 24.92 G C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.36841 0.36840 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999885
dbSNP Clinvar 		92240080 6268.93 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 26 None None None 0.83606 0.83610 None None None None None None CCSER1|0.179797767|39.06%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999808
dbSNP Clinvar 		142684204 184.43 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.55292 0.55290 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999729
dbSNP Clinvar 		92240031 3632.93 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 12 None None None 0.83646 0.83650 None None None None None None CCSER1|0.179797767|39.06%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999689
dbSNP Clinvar 		5927071 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.86242 0.86240 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999596
dbSNP Clinvar 		154315340 2148.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 14 None None None 0.18850 0.18850 None None None None None None MND1|0.781665019|6.28%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999589
dbSNP Clinvar 		68904834 4719.93 T G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 24 None None None 0.64996 0.65000 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999535
dbSNP Clinvar 		72602653 59.58 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.31130 0.31130 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999533
dbSNP Clinvar 		42211367 21.93 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.36362 0.36360 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999488
dbSNP Clinvar 		45599313 24.92 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999310
dbSNP Clinvar 		116446433 125.56 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.38758 0.38760 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999285
dbSNP Clinvar 		155410407 244.47 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 8 None None None 0.22923 0.22920 None None None None None None DCHS2|0.027332994|70.73%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999200
dbSNP Clinvar 		99030690 56.18 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.37520 0.37520 None None None None None None STPG2|0.099940313|51.2%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999095
dbSNP Clinvar 		65147708 24.92 A T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.97025 0.97020 None None None None None None TECRL|0.190099811|37.79%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9999006
dbSNP Clinvar 		97274246 24.92 A G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.46246 0.46250 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998929
dbSNP Clinvar 		60685212 24.92 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.59824 0.59820 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998835
dbSNP Clinvar 		6293237 837.45 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 None None None 0.72784 0.72780 None None None None None None WFS1|0.225742755|33.79%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998789
dbSNP Clinvar 		34714169 24.92 A G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.85184 0.85180 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998786
dbSNP Clinvar 		678788 664.71 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 None None None 0.22524 0.22520 None None None None None None MFSD7|0.005528939|85.18%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998785
dbSNP Clinvar 		122728965 1738.0 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 10 None None None 0.27656 0.27660 None None None None None None EXOSC9|0.551642967|13.65%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998682
dbSNP Clinvar 		98939009 24.92 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.37320 0.37320 None None None None None None STPG2|0.099940313|51.2%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998652
dbSNP Clinvar 		156760373 104.91 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.98003 0.98000 None None None None None None ASIC5|0.031479338|68.79%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998591
dbSNP Clinvar 		39242111 1701.95 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 10 None None None 0.65695 0.65690 None None None None None None WDR19|0.167993479|40.57%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998523
dbSNP Clinvar 		86671305 17.94 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.60244 0.60240 None None None None None None ARHGAP24|0.256470392|31.01%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998519
dbSNP Clinvar 		6292909 19501.93 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 66 None None None 0.71506 0.71510 0.38367 None None None None None None WFS1|0.225742755|33.79%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998479
dbSNP Clinvar 		133265931 260.43 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.86801 0.86800 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998404
dbSNP Clinvar 		183333472 24.92 T A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.22484 0.22480 None None None None None None TENM3|0.916849963|3.06%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998275
dbSNP Clinvar 		111431182 204.1 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.24681 0.24680 None None None None None None ENPEP|0.028126244|70.38%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998136
dbSNP Clinvar 		79550425 74.2 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 None None None 0.69269 0.69270 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998065
dbSNP Clinvar 		148590474 111.49 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.80491 0.80490 None None None None None None TMEM184C|0.209967101|35.59%,PRMT9|0.152656967|42.58%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9998014
dbSNP Clinvar 		69839252 24.92 G C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.45028 0.45030 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9997999
dbSNP Clinvar 		26673761 1594.95 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 10 None None None 0.86122 0.86120 0.11426 None None None None None None TBC1D19|0.425267376|19.34%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9997932
dbSNP Clinvar 		48492188 967.2 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 None None None 0.98602 0.98600 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9997824
dbSNP Clinvar 		6283253 257.03 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 8 None None None 0.80851 0.80850 None None None None None None WFS1|0.225742755|33.79%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9997727
dbSNP Clinvar 		5969113 3748.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 38 None None None 0.52736 0.52740 0.34300 None None None None None None C4orf50|0.000584752|98.01%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9997490
dbSNP Clinvar 		9529506 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.18630 0.44990 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9997358
dbSNP Clinvar 		54310633 24.92 T A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.78494 0.78490 None None None None None None FIP1L1|0.803179019|5.74%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9997276
dbSNP Clinvar 		10971195 40.18 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None 0.31230 0.31230 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9997087
dbSNP Clinvar 		70947030 134.01 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 6 None None None 0.13079 0.13080 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9997029
dbSNP Clinvar 		1645774 1524.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 12 None None None 0.19309 0.19310 None None None None None None FAM53A|0.004394146|86.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996914
dbSNP Clinvar 		171598690 156.91 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.15915 0.15910 None None None None None None None

UVSSA
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996817
dbSNP Clinvar 		1377615 3791.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 58 SYNONYMOUS_CODING LOW None 0.71725 0.71730 0.27949 None None None None None None UVSSA|0.009357556|81.41%
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996726
dbSNP Clinvar 		149616377 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.30511 0.30510 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996714
dbSNP Clinvar 		67847983 24.92 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.95986 0.95990 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996653
dbSNP Clinvar 		28727760 24.92 A G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.45787 0.45790 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996636
dbSNP Clinvar 		170628524 144.23 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 None None None 0.44469 0.44470 None None None None None None CLCN3|0.317818804|26.24%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996593
dbSNP Clinvar 		57175316 1543.97 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 12 None None None 0.48243 0.48240 None None None None None None KIAA1211|0.006705951|83.84%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996535
dbSNP Clinvar 		48069725 701.69 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 24 None None None 0.43411 0.43410 0.45840 None None None None None None TXK|0.28744508|28.55%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996529
dbSNP Clinvar 		154471113 607.33 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 12 None None None 0.55611 0.55610 None None None None None None KIAA0922|0.054275896|61.4%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996467
dbSNP Clinvar 		69798670 691.64 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 6 None None None 0.67572 0.67570 None None None None None None UGT2A3|0.001694457|91.92%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996465
dbSNP Clinvar 		2259457 202.11 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.29832 0.29830 None None None None None None MXD4|0.098846181|51.38%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996452
dbSNP Clinvar 		15560631 293.51 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.41534 0.41530 None None None None None None CC2D2A|0.011782601|79.39%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996386
dbSNP Clinvar 		107163773 902.64 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 22 None None None 0.03654 0.03654 0.06943 None None None None None None TBCK|0.260825551|30.67%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996331
dbSNP Clinvar 		57830501 3530.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 18 None None None 0.61921 0.61920 None None None None None None NOA1|0.040203469|65.71%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9996137
dbSNP Clinvar 		185078850 96.05 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.80731 0.80730 None None None None None None ENPP6|0.0944336|52.25%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995999
dbSNP Clinvar 		169209583 3315.93 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 20 None None None 0.38219 0.38220 None None None None None None DDX60|0.008612712|82.02%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995929
dbSNP Clinvar 		11636010 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.56909 0.56910 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995927
dbSNP Clinvar 		15480073 478.85 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.85024 0.85020 None None None None None None CC2D2A|0.011782601|79.39%

DTHD1
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995922
dbSNP Clinvar 		36317970 17663.93 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 80 SYNONYMOUS_CODING LOW None 0.35823 0.35820 0.40429 None None None None None None DTHD1|0.03621525|67.05%
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995818
dbSNP Clinvar 		64545140 24.92 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.60463 0.60460 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995810
dbSNP Clinvar 		74347297 96.91 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.96266 0.96270 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995718
dbSNP Clinvar 		48884369 74.05 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.93910 0.93910 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995654
dbSNP Clinvar 		139422771 74.05 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.58187 0.58190 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995457
dbSNP Clinvar 		128299301 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.82408 0.82410 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995366
dbSNP Clinvar 		187131384 1258.05 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 6 None None None 0.82748 0.82750 None None None None None None CYP4V2|0.027940176|70.46%,KLKB1|0.016624072|76.14%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995294
dbSNP Clinvar 		6055971 2718.34 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 44 None None None 0.28714 0.28710 None None None None None None JAKMIP1|0.091212153|52.99%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995279
dbSNP Clinvar 		1050850 8199.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 64 None None None 0.77416 0.77420 None None None None None None RNF212|0.003109274|88.48%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995250
dbSNP Clinvar 		105174791 24.92 T A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.74541 0.74540 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995146
dbSNP Clinvar 		6120811 152.66 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None 0.68470 0.68470 None None None None None None JAKMIP1|0.091212153|52.99%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9995004
dbSNP Clinvar 		117862599 24.92 A G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.66813 0.66810 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs999477
dbSNP Clinvar 		188285368 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.27276 0.27280 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9994716
dbSNP Clinvar 		83905258 2687.34 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 36 None None None 0.35743 0.35740 None None None None None None LIN54|0.327698843|25.65%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9994692
dbSNP Clinvar 		54256167 1701.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 18 None None None 0.12021 0.12020 None None None None None None FIP1L1|0.803179019|5.74%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9994521
dbSNP Clinvar 		65960835 64.58 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.97244 0.97240 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9994288
dbSNP Clinvar 		1645884 5549.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 58 None None None 0.19349 0.19350 None None None None None None FAM53A|0.004394146|86.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9994222
dbSNP Clinvar 		92107650 288.64 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 6 None None None 0.67512 0.67510 None None None None None None CCSER1|0.179797767|39.06%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9994044
dbSNP Clinvar 		59653230 74.05 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.88299 0.88300 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9994032
dbSNP Clinvar 		178882120 4671.93 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 30 None None None 0.94209 0.94210 0.05765 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993959
dbSNP Clinvar 		21420408 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.17712 0.17710 None None None None None None KCNIP4|0.762187494|6.79%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993903
dbSNP Clinvar 		506330 65.9 T G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.00280 0.00280 None None None None None None PIGG|0.021965261|73.18%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993840
dbSNP Clinvar 		29378370 74.05 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.50919 0.50920 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993793
dbSNP Clinvar 		17140639 61.58 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.16234 0.16230 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993580
dbSNP Clinvar 		15480225 3719.93 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 14 None None None 0.84884 0.84880 None None None None None None CC2D2A|0.011782601|79.39%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993501
dbSNP Clinvar 		166116807 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.12220 0.12220 None None None None None None TMEM192|0.024652114|71.94%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993327
dbSNP Clinvar 		174131671 65.58 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.87879 0.87880 None None None None None None GALNT7|0.383691128|21.8%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993305
dbSNP Clinvar 		23259285 24.92 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.88279 0.88280 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993300
dbSNP Clinvar 		63207597 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.18790 0.18790 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993289
dbSNP Clinvar 		160724786 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.91394 0.91390 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993241
dbSNP Clinvar 		81604225 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.52296 0.52300 None None None None None None C4orf22|0.322733711|25.98%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993206
dbSNP Clinvar 		122686957 543.52 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.31470 0.31470 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs999318
dbSNP Clinvar 		166650205 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.57049 0.57050 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9993159
dbSNP Clinvar 		847462 147.1 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.65455 0.65460 None None None None None None GAK|0.037732816|66.55%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9992933
dbSNP Clinvar 		82092967 1803.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 28 None None None 0.46985 0.46980 0.35315 None None None None None None PRKG2|0.526818087|14.7%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9992925
dbSNP Clinvar 		1050909 3031.34 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 42 None None None 0.77336 0.77340 None None None None None None RNF212|0.003109274|88.48%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9992798
dbSNP Clinvar 		10554478 24.92 A G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.96146 0.96150 None None None None None None CLNK|0.005919624|84.67%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9992701
dbSNP Clinvar 		95531156 1033.23 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 10 None None None 0.91613 0.91610 None None None None None None PDLIM5|0.641612713|10.4%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9992698
dbSNP Clinvar 		70504313 24.92 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.43211 0.43210 None None None None None None UGT2A1|0.05524136|61.14%,UGT2A2|0.121711396|47.21%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs9992620
dbSNP Clinvar 		95058207 24.92 A T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.23722 0.23720 None None None None None None None
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