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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

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Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4690258,rs935469494
dbSNP Clinvar 		47589 915.39 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 6 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 38651908 24.92 C A 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 . 17793404 32.91 G A 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 . 17793410 32.91 C A 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 . 53728429 166.42 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 16 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 6728413 100.91 G A 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 rs195135
dbSNP Clinvar 		5391635 103.91 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.60403 0.60400 None None None None None None STK32B|0.177962266|39.31%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2301858
dbSNP Clinvar 		5418383 1531.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 6 None None None 0.45328 0.45330 None None None None None None STK32B|0.177962266|39.31%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 9719506 155.43 G A 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 rs1684775
dbSNP Clinvar 		45592344 135.11 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.84944 0.84940 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7675599
dbSNP Clinvar 		9736516 147.6 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.89417 0.89420 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs81607
dbSNP Clinvar 		5420729 888.42 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 8 None None None 0.47304 0.47300 None None None None None None STK32B|0.177962266|39.31%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6828686
dbSNP Clinvar 		46047774 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.46206 0.46210 None None None None None None GABRG1|0.197539186|36.99%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs76098453
dbSNP Clinvar 		46118721 24.92 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.03514 0.03514 None None None None None None GABRG1|0.197539186|36.99%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 11746847 107.15 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 4 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10938431
dbSNP Clinvar 		46174689 62.58 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.34744 0.34740 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2335500
dbSNP Clinvar 		957778 3620.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 46 None None None 0.09185 0.09185 None None None None None None DGKQ|0.033325388|68.02%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs34453123
dbSNP Clinvar 		5448592 1342.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 16 None None None 0.17851 0.17850 None None None None None None STK32B|0.177962266|39.31%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2280333
dbSNP Clinvar 		9811133 365.85 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 None None None 0.29613 0.29610 None None None None None None SLC2A9|0.040817675|65.52%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10938435
dbSNP Clinvar 		46263864 10780.34 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 94 None None None 0.51058 0.51060 None None None None None None GABRA2|0.425220983|19.34%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs552116
dbSNP Clinvar 		46269117 20.1 T A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.63399 0.63400 None None None None None None GABRA2|0.425220983|19.34%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs526752
dbSNP Clinvar 		46276629 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.63778 0.63780 None None None None None None GABRA2|0.425220983|19.34%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10009838
dbSNP Clinvar 		9833882 221.95 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.47983 0.47980 None None None None None None SLC2A9|0.040817675|65.52%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 46334584 2029.34 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 24 None None None None None None None None None GABRA2|0.425220983|19.34%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs28515563
dbSNP Clinvar 		1315123 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.11761 0.11760 None None None None None None MAEA|0.748552303|7.13%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 46678263 24.92 C A 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 rs6446362
dbSNP Clinvar 		5458034 112.49 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.75479 0.75480 None None None None None None STK32B|0.177962266|39.31%

SLC2A9
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 rs2280205
dbSNP Clinvar 		9909923 4078.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.27117 0.27120 0.37936 0.21 0.02 None None None None None None SLC2A9|0.040817675|65.52%
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 . 46973038 945.7 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 16 None None None None None None None None None GABRA4|0.302134042|27.48%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs45625131
dbSNP Clinvar 		46973270 7027.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 82 None None None 0.00859 0.00859 0.02315 None None None None None None GABRA4|0.302134042|27.48%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4690324
dbSNP Clinvar 		960081 33091.93 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 1/1 132 None None None 0.89577 0.89580 None None None None None None DGKQ|0.033325388|68.02%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs11933854
dbSNP Clinvar 		1315172 65.9 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.36681 0.36680 None None None None None None MAEA|0.748552303|7.13%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs11933855
dbSNP Clinvar 		1315183 65.9 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.36502 0.36500 None None None None None None MAEA|0.748552303|7.13%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs62294328
dbSNP Clinvar 		9957708 11.47 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None 0.41633 0.41630 None None None None None None SLC2A9|0.040817675|65.52%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs45460902
dbSNP Clinvar 		47034075 8561.93 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 46 None None None 0.47424 0.47420 0.47416 None None None None None None GABRB1|0.572974725|12.87%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs73247629
dbSNP Clinvar 		47034145 1583.74 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 10 None None None 0.48383 0.48380 None None None None None None GABRB1|0.572974725|12.87%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7676327
dbSNP Clinvar 		47044999 171.26 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.46745 0.46750 None None None None None None GABRB1|0.572974725|12.87%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7699999
dbSNP Clinvar 		47053769 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.48143 0.48140 None None None None None None GABRB1|0.572974725|12.87%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs41268643
dbSNP Clinvar 		5469916 2548.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 40 None None None 0.38219 0.38220 None None None None None None STK32B|0.177962266|39.31%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 47072394 22.52 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None GABRB1|0.572974725|12.87%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 9985093 21.93 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None SLC2A9|0.040817675|65.52%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs988944
dbSNP Clinvar 		47163087 425.23 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.86162 0.86160 None None None None None None GABRB1|0.572974725|12.87%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2335937
dbSNP Clinvar 		1321516 3166.34 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 56 None None None 0.13638 0.13640 0.18433 None None None None None None MAEA|0.748552303|7.13%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 5500981 25.16 T A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 30 None None None None None None None None None STK32B|0.177962266|39.31%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs1963910
dbSNP Clinvar 		47195232 24.92 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.66374 0.66370 None None None None None None GABRB1|0.572974725|12.87%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs13107466
dbSNP Clinvar 		10019390 62.58 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.40835 0.40830 None None None None None None SLC2A9|0.040817675|65.52%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs28863609
dbSNP Clinvar 		58933072 94.7 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.35503 0.35500 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 5507637 64.58 C A 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 rs2240721
dbSNP Clinvar 		10020564 2189.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 24 None None None 0.40855 0.40850 0.39730 None None None None None None SLC2A9|0.040817675|65.52%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 5538837 19.07 C A 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 rs10028945
dbSNP Clinvar 		47428305 323.65 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 10 None None None 0.20108 0.20110 None None None None None None GABRB1|0.572974725|12.87%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10937648
dbSNP Clinvar 		5543504 62.58 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.17532 0.17530 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10937650
dbSNP Clinvar 		5544739 3952.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 44 None None None 0.17392 0.17390 None None None None None None EVC2|0.018780788|74.81%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs12647168
dbSNP Clinvar 		10047925 58.64 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.60204 0.60200 None None None None None None SLC2A9|0.040817675|65.52%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7671616
dbSNP Clinvar 		47495865 218.26 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.98203 0.98200 None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10033088
dbSNP Clinvar 		10057712 53.18 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.66733 0.66730 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 47514510 66.15 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 66 None None None None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs5858076
dbSNP Clinvar 		47525009 4820.93 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 28 None None None 0.00220 0.98840 None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs3822247
dbSNP Clinvar 		10094671 6042.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 70 None None None 0.26717 0.26720 None None None None None None WDR1|0.129070667|46.02%

ATP10D
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 rs34208443
dbSNP Clinvar 		47560002 12318.93 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.07728 0.07728 0.14232 0.22 0.10 None None None None None None ATP10D|0.06998296|57.49%
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 rs13106043
dbSNP Clinvar 		47561141 4309.93 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 32 None None None 0.33227 0.33230 None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 47572654 21.93 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6838831
dbSNP Clinvar 		49158745 24.92 T A 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 rs66519938
dbSNP Clinvar 		3583643 261.68 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None LINC00955|0.001348255|93.6%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs145432962
dbSNP Clinvar 		961275 3511.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 32 None None None 0.00300 0.00300 None None None None None None DGKQ|0.033325388|68.02%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 961284 3938.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 40 None None None None None None None None None DGKQ|0.033325388|68.02%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs1013600
dbSNP Clinvar 		5633205 174.76 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.52656 0.52660 None None None None None None EVC2|0.018780788|74.81%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs3822241
dbSNP Clinvar 		10094931 1179.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 14 None None None 0.27197 0.27200 None None None None None None WDR1|0.129070667|46.02%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4235351
dbSNP Clinvar 		10096970 96.05 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.99880 0.99880 None None None None None None WDR1|0.129070667|46.02%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2351790
dbSNP Clinvar 		47589299 5321.93 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 36 None None None 0.55831 0.55830 None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4865256
dbSNP Clinvar 		58501865 24.92 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.87161 0.87160 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs35782983
dbSNP Clinvar 		10117728 9928.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 108 None None None 0.13199 0.13200 0.15472 None None None None None None WDR1|0.129070667|46.02%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 47592794 11.47 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None None None None None None None ATP10D|0.06998296|57.49%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs147242391
dbSNP Clinvar 		47605278 332.87 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 8 None None None 0.00300 0.00300 None None None None None None CORIN|0.070281141|57.43%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs12645292
dbSNP Clinvar 		58394799 102.16 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.59884 0.59880 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7667912
dbSNP Clinvar 		47608329 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.23083 0.23080 None None None None None None CORIN|0.070281141|57.43%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs34768406
dbSNP Clinvar 		10118350 5087.34 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 66 None None None 0.12340 0.12340 None None None None None None WDR1|0.129070667|46.02%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10031014
dbSNP Clinvar 		47624268 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.22883 0.22880 None None None None None None CORIN|0.070281141|57.43%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7658596
dbSNP Clinvar 		47626416 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.22903 0.22900 None None None None None None CORIN|0.070281141|57.43%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs13136452
dbSNP Clinvar 		59954755 21.93 T A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.37021 0.37020 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs357822
dbSNP Clinvar 		59992540 63.58 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.25499 0.25500 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs1109775
dbSNP Clinvar 		10144760 24.92 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.47224 0.47220 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs28848023
dbSNP Clinvar 		47639366 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.22145 0.22140 None None None None None None CORIN|0.070281141|57.43%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs1317606
dbSNP Clinvar 		47651445 24.92 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.22205 0.22200 None None None None None None CORIN|0.070281141|57.43%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 47666967 1896.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 14 None None None None None None None None None CORIN|0.070281141|57.43%

DGKQ
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 rs17855876
dbSNP Clinvar 		967191 463.55 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.10264 0.10260 0.00 0.09 None None None None None None DGKQ|0.033325388|68.02%
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 rs10000797
dbSNP Clinvar 		1345647 1637.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 22 None None None 0.12620 0.12620 0.17577 None None None None None None UVSSA|0.009357556|81.41%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 47808680 21.93 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None CORIN|0.070281141|57.43%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs75886611
dbSNP Clinvar 		5667133 4512.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 20 None None None 0.15216 0.15220 None None None None None None EVC2|0.018780788|74.81%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs79284218
dbSNP Clinvar 		5667134 4512.34 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 22 None None None 0.15216 0.15220 None None None None None None EVC2|0.018780788|74.81%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 47856449 24.92 T A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None NFXL1|0.146390299|43.54%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 23418950 24.92 C A 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 rs957727
dbSNP Clinvar 		5686924 1688.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 20 None None None 0.65695 0.65690 None None None None None None EVC2|0.018780788|74.81%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10000104
dbSNP Clinvar 		10191766 20.6 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.67812 0.67810 None None None None None None None

NFXL1
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 rs6818556
dbSNP Clinvar 		47887991 8824.93 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 58 SYNONYMOUS_CODING LOW None 0.71665 0.71670 0.27341 None None None None None None NFXL1|0.146390299|43.54%
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 rs5010621
dbSNP Clinvar 		190543954 65.9 C A 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 rs11940441
dbSNP Clinvar 		47888137 1181.12 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 8 None None None 0.25439 0.25440 None None None None None None NFXL1|0.146390299|43.54%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6447593
dbSNP Clinvar 		47899792 356.96 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.71685 0.71690 None None None None None None NFXL1|0.146390299|43.54%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4475122
dbSNP Clinvar 		47901259 905.15 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 None None None 0.27776 0.27780 None None None None None None NFXL1|0.146390299|43.54%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 972096 12.2 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None None None None None None None DGKQ|0.033325388|68.02%
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