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+ Genes 387

Genes:
ABLIM2, ACOX3, ACSL1, ADAD1, ADAMTS3, ADH1B, ADH1C, ADH4, ADH6, AFAP1, AFF1, AFP, AGA, ALB, ALPK1, AMTN, ANAPC4, ANK2, ANKRD17, ANTXR2, ANXA10, APBB2, ARAP2, ARHGAP10, ARHGEF38, ART3, ASB5, ASIC5, ATP10D, BANK1, BBS12, BDH2, BMP2K, BMP3, BOD1L1, BTC, C4orf17, C4orf21, C4orf22, C4orf26, C4orf27, C4orf3, C4orf32, C4orf33, C4orf36, C4orf40, C4orf45, C4orf48, C4orf50, CABS1, CAMK2D, CBR4, CCDC109B, CCDC110, CCDC158, CCDC96, CCNA2, CCSER1, CDKN2AIP, CENPC, CEP44, CFI, CHRNA9, CISD2, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNOT6L, COL25A1, COQ2, CORIN, COX18, CPEB2, CPZ, CRIPAK, CRMP1, CSN1S1, CWH43, CXCL5, CXXC4, CYP4V2, CYTL1, DAPP1, DCAF4L1, DCHS2, DCLK2, DDIT4L, DDX60, DDX60L, DGKQ, DMP1, DOK7, DSPP, DTHD1, DUX4L4, EGF, EIF4E, ELF2, EMCN, ENPEP, ENPP6, EPHA5, EREG, ETFDH, EVC, EVC2, EXOC1, FABP2, FAM114A1, FAM13A, FAM149A, FAM184B, FAM198B, FAM218A, FAM47E, FAM53A, FAM90A26, FAT1, FAT4, FGB, FGFBP1, FGFBP2, FGFR3, FGFRL1, FHDC1, FNIP2, FRAS1, FREM3, FRG1, FRYL, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GALNTL6, GAR1, GBA3, GC, GK2, GLRA3, GLRB, GPR125, GPR78, GPRIN3, GRIA2, GRID2, GRK4, GRSF1, GRXCR1, GSX2, GUCY1A3, GUCY1B3, GUF1, GYPA, GYPB, GYPE, HADH, HELQ, HERC5, HERC6, HGFAC, HHIP, HPGD, HPSE, HSD17B11, HSPA4L, HTRA3, HTT, IBSP, IDUA, IGFBP7, IL2, IL21, ING2, INPP4B, INTU, IRF2, KCNIP4, KIAA0922, KIAA1109, KIAA1211, KIAA1430, KIT, KLB, KLHL2, KLHL5, KLKB1, LAP3, LARP1B, LETM1, LGI2, LIMCH1, LIN54, LINC00955, LPHN3, LRAT, LRBA, LRIT3, LYAR, MAEA, MAML3, MAN2B2, MANBA, MAP9, MARCH1, MFSD7, MFSD8, MTTP, MUC7, N4BP2, NAAA, NAP1L5, NCAPG, NDNF, NEIL3, NEK1, NEUROG2, NFKB1, NFXL1, NIPAL1, NKX3-2, NOA1, NOP14, NPNT, NPY2R, NPY5R, NR3C2, NSUN7, NUDT6, OTOP1, PALLD, PAPSS1, PARM1, PCDH18, PDE5A, PDE6B, PDGFRA, PDLIM3, PDLIM5, PDS5A, PGM2, PHOX2B, PI4K2B, PLK4, POLN, POLR2B, POU4F2, PPA2, PPARGC1A, PPEF2, PPID, PPP2R2C, PRDM8, PRIMPOL, PRKG2, PROM1, PRSS12, PRSS48, PSAPL1, PTPN13, QDPR, RAPGEF2, RBM46, RBM47, RBPJ, REST, RFC1, RNF175, RNF212, RP11-1396O13.13, RP11-455G16.1, RPL9, S100P, SCD5, SCFD2, SCLT1, SDAD1, SEC24D, SEC31A, SEPT11, SFRP2, SH3BP2, SH3RF1, SH3TC1, SHROOM3, SLAIN2, SLC10A6, SLC25A31, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC4A4, SLC7A11, SLC9B1, SLC9B2, SMARCA5, SMARCAD1, SMR3A, SNCA, SOD3, SORCS2, SOWAHB, SPARCL1, SPATA18, SPATA4, SPOCK3, SPON2, STAP1, STIM2, STPG2, SYNPO2, TACC3, TBC1D1, TBC1D19, TBC1D9, TBCK, TDO2, TEC, TENM3, TET2, THAP9, TIFA, TIGD4, TKTL2, TLL1, TLR1, TLR10, TLR2, TLR3, TLR6, TMA16, TMEM128, TMEM129, TMEM144, TMEM155, TMEM156, TMEM165, TMEM175, TMEM192, TMPRSS11A, TMPRSS11B, TMPRSS11E, TMPRSS11F, TNIP2, TRIM2, TRIML1, TRIML2, TRPC3, TXK, UCP1, UGDH, UGT2A1, UGT2A3, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP17L18, USP38, USP53, UVSSA, VEGFC, WDR1, WDR17, WDR19, WFS1, WHSC1, WWC2, YIPF7, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF732,

+ Genes associated with diseases 101

Genes at Omim

ADAMTS3, ADH1B, ADH1C, AFP, AGA, ALB, AMTN, ANK2, ANTXR2, BBS12, CFI, CISD2, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DSPP, EGF, EIF4E, ETFDH, EVC, EVC2, FAT4, FGB, FGFR3, FRAS1, GABRA2, GABRB1, GLRB, GRID2, GRXCR1, GUCY1A3, GUF1, GYPA, GYPB, HPGD, HTT, IDUA, IGFBP7, IL21, INTU, KIAA1109, KIT, KLKB1, LRAT, LRBA, LRIT3, MANBA, MFSD8, MTTP, MUC7, NEK1, NFKB1, NKX3-2, NR3C2, PALLD, PDE6B, PDGFRA, PHOX2B, PLK4, PPA2, PRDM8, PROM1, PRSS12, QDPR, RAPGEF2, RBPJ, REST, RNF212, SEC24D, SH3BP2, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC4A4, SMARCAD1, SNCA, SOD3, TBCK, TDO2, TEC, TENM3, TET2, TLL1, TLR1, TLR2, TLR3, TMEM165, TRIM2, TRPC3, UCP1, UGT2B17, UVSSA, VEGFC, WDR19, WFS1, ZNF141,
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)
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)
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)
CISD2 Wolfram syndrome 2, 604928 (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)
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)
EGF Hypomagnesemia 4, renal, 611718 (3)
EIF4E {Autism, susceptibility to, 19}, 615091 (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)
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)
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)
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)
GYPA {Malaria, resistance to}, 611162 (3)
[Blood group, MNSs system], 111300 (3)
GYPB {Malaria, resistance to}, 611162 (3)
[Blood group, Ss], 111740 (3)
HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3)
Cranioosteoarthropathy, 259100 (3)
Digital clubbing, isolated congenital, 119900 (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)
IGFBP7 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
IL21 ?Immunodeficiency, common variable, 11, 615767 (3)
INTU ?Orofaciodigital syndrome XVII, 617926 (3)
?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (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)
LRAT Leber congenital amaurosis 14, 613341 (3)
Retinal dystrophy, early-onset severe, 613341 (3)
Retinitis pigmentosa, juvenile, 613341 (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)
MFSD8 Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
Macular dystrophy with central cone involvement, 616170 (3)
MTTP Abetalipoproteinemia, 200100 (3)
{Metabolic syndrome, protection against}, 605552 (3)
MUC7 {Asthma, protection against}, 600807 (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)
PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)
PPA2 ?Sudden cardiac failure, alcohol-induced, 617223 (3)
Sudden cardiac failure, infantile, 617222 (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)
REST Fibromatosis, gingival, 5, 617626 (3)
{Wilms tumor 6, susceptibility to}, 616806 (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)
SNCA Dementia, Lewy body, 127750 (3)
Parkinson disease 1, 168601 (3)
Parkinson disease 4, 605543 (3)
SOD3 [Superoxide dismutase, elevated extracellular] (3)
TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)
TDO2 [?Hypertryptophanemia], 600627 (3)
TEC Transient erythroblastopenia of childhood (2)
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)
TLR2 {Leprosy, susceptibility to}, 246300 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Colorectal cancer, susceptibility to}, 114500 (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)
TRIM2 Charcot-Marie-Tooth disease, type 2R, 615490 (3)
TRPC3 ?Spinocerebellar ataxia 41, 616410 (3)
UCP1 {Obesity, susceptibility to}, 601665 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
VEGFC Lymphatic malformation 4, 615907 (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)
ZNF141 ?Polydactyly, postaxial, type A6, 615226 (3)

Genes at Clinical Genomics Database

AFP, AGA, ALB, ANK2, ANTXR2, BBS12, CFI, CISD2, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DSPP, EGF, ETFDH, EVC, EVC2, FAT4, FGB, FGFR3, FRAS1, GLRB, GRID2, GRXCR1, GUCY1A3, GYPA, GYPB, HADH, HPGD, HTT, IDUA, IGFBP7, IL21, KIT, KLKB1, LRAT, LRBA, LRIT3, MANBA, MFSD8, MTTP, NEK1, NFKB1, NKX3-2, NR3C2, PDE6B, PDGFRA, PHOX2B, PLK4, PRDM8, PRIMPOL, PROM1, PRSS12, QDPR, RBPJ, REST, SH3BP2, SLC2A9, SLC34A2, SLC39A8, SLC4A4, SMARCAD1, SNCA, TENM3, TLL1, TLR3, TMEM165, TRIM2, TRPC3, UVSSA, VEGFC, WDR19, WFS1, ZNF141,
AFP AFP deficiency, congenital
Hereditary persistence of AFP
AGA Aspartylglucosaminuria
ALB Dysalbuminemic hyperthyroxinemia
Analbuminemia
ANK2 Long QT syndrome, 4
Cardiac arrhythmia, ankyrin-B-related
ANTXR2 Hyalinosis, infantile systemic
Fibromatosis, juveline hyaline
BBS12 Bardet-Biedl syndrome 12
CFI Hemolytic uremic syndrome, atypical
Complement factor I deficiency
CISD2 Wolfram syndrome 2
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
EGF Hypomagnesemia 4, renal
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
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2
FGB Afibrinogenemia, congenital
Dysfibrinogenemia, congenital
Hypodysfibrinogenemia, congenital
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
GYPA Blood group, MN locus
Blood group, Erik
GYPB Blood group, Ss
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1
Cranioosteoarthropathy
Digital clubbing, isolated congenital
HTT Huntington disease
IDUA Mucopolysaccharidosis type I
IGFBP7 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
IL21 Immunodeficiency, common variable, 11
KIT Gastrointestinal stromal tumor
KLKB1 Prekallikrein deficiency
LRAT Leber congenital amaurosis 14
Retinitis pigmentosa, juvenile
Retinal-dystrophy, early-onset severe
Retinitis punctata albescens
LRBA Common variable immunodeficiency 8, with autoimmunity
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive
MANBA Mannosidosis, beta A, lysosomal
MFSD8 Ceroid lipofuscinosis, neuronal, 7
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
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
PLK4 Microcephaly and chorioretinopathy, autosomal recessive 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
REST Wilms tumor 6, susceptibility to
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
SNCA Parkinson disease 1
Parkinson disease 4
Dementia with Lewy bodies
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
TRIM2 Charcot-Marie-Tooth disease, axonal, type 2R
TRPC3 Spinocerebellar ataxia 41
UVSSA UV-sensitive syndrome 3
VEGFC Lymphedema, hereditary, ID
WDR19 Short-rib thoracic dysplasia 5 with or without polydactyly
Cranioectodermal dysplasia 4
Nephronophthisis 13
Retinitis pigmentosa
Senior-Loken syndrome 8
WFS1 Wolfram syndrome
ZNF141 Postaxial polydactyly type A, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 6586
Number of Genes: 387

Export to: CSV

ABLIM2
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 lb9428 final 4 rs2385904
dbSNP Clinvar 		8031471 51612.33 A G PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.73363 0.73360 0.24947 None None None None None None ABLIM2|0.046835245|63.64%

ACOX3
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 lb9428 final 4 rs2280571
dbSNP Clinvar 		8375342 17704.14 G A PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.14157 0.14160 0.14586 None None None None None None ACOX3|0.00758026|82.99%

ACSL1
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 lb9428 final 4 rs1803898
dbSNP Clinvar 		185701549 174158.68 G T PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.16074 0.16070 0.24704 None None None None None None ACSL1|0.105455707|50.16%

ADAD1
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 lb9428 final 4 rs28572399
dbSNP Clinvar 		123302244 2643.08 C T PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.10324 0.10320 0.09619 None None None None None None ADAD1|0.376192951|22.3%

ADAMTS3
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 lb9428 final 4 rs788908
dbSNP Clinvar 		73414286 515798.75 C T PASS 0/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.64297 0.64300 0.31570 0.49 0.00 None None None None None None ADAMTS3|0.36423469|23.14%

ADH1B
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 lb9428 final 4 rs1229984
dbSNP Clinvar 		100239319 755127.8 T C PASS 0/1 176 NON_SYNONYMOUS_CODING MODERATE None 0.84145 0.84150 0.03652 0.65 0.00 None None None None None None ADH1B|0.074839204|56.32%
View lb9428 final 4 rs1789882
dbSNP Clinvar 		100235053 771867.31 A G TruthSensitivityTranche99.90to100.00 0/1 250 SYNONYMOUS_CODING LOW None 0.82967 0.82970 0.19151 None None None None None None ADH1B|0.074839204|56.32%

ADH1C
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 lb9428 final 4 rs283413
dbSNP Clinvar 		100268190 992065.12 A C TruthSensitivityTranche99.00to99.90 0/1 250 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

ADH4
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 lb9428 final 4 rs1126670
dbSNP Clinvar 		100052733 277425.17 C A PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.84724 0.84720 0.26872 None None None None None None ADH4|0.01057839|80.46%
View lb9428 final 4 rs2032349
dbSNP Clinvar 		100062819 355346.06 A G PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.96406 0.96410 0.04121 None None None None None None ADH4|0.01057839|80.46%
View lb9428 final 4 rs1126671
dbSNP Clinvar 		100048414 243103.95 T C PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.84705 0.84700 0.26911 0.69 0.00 None None None None None None ADH4|0.01057839|80.46%
View lb9428 final 4 rs1126673
dbSNP Clinvar 		100045616 88379.11 C T PASS 1/1 31 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.84724 0.84720 0.26992 1.00 0.00 None None None None None None ADH4|0.01057839|80.46%

ADH6
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 lb9428 final 4 rs4699735
dbSNP Clinvar 		100140306 207471.94 A T PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00031 1.00 0.00 None None None None None None ADH6|0.003690924|87.44%

AFAP1
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 lb9428 final 4 rs41264705
dbSNP Clinvar 		7780582 171293.32 C T PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.11062 0.11060 0.21667 0.13 0.02 None None None None None None AFAP1|0.028735408|70.06%
View lb9428 final 4 rs28542374
dbSNP Clinvar 		7783163 399613.59 G A PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.62540 0.62540 0.40035 None None None None None None AFAP1|0.028735408|70.06%
View lb9428 final 4 rs11728778
dbSNP Clinvar 		7802292 62143.78 G A PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.11162 0.11160 0.21936 None None None None None None AFAP1|0.028735408|70.06%
View lb9428 final 4 rs61742221
dbSNP Clinvar 		7857230 75037.39 C T PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.17812 0.17810 0.32301 None None None None None None AFAP1|0.028735408|70.06%

AFF1
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 lb9428 final 4 rs373231432
dbSNP Clinvar 		88036182 52869.12 C CAAA TruthSensitivityTranche99.90to100.00 0/1 86 CODON_INSERTION MODERATE None None None None None None None AFF1|0.048316691|63.19%

AFP
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 lb9428 final 4 rs4235117
dbSNP Clinvar 		74318330 233123.96 A G PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.97704 0.97700 0.02007 None None None None None None AFP|0.580248443|12.58%
View lb9428 final 4 rs28482344
dbSNP Clinvar 		74313193 1146.36 C T PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.00459 0.00459 0.01269 None None None None None None AFP|0.580248443|12.58%

AGA
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 lb9428 final 4 rs2228119
dbSNP Clinvar 		178359960 189611.99 G C PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.07474 0.45 0.00 None None None None None None AGA|0.096232451|51.89%

ALB
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 lb9428 final 4 rs962004
dbSNP Clinvar 		74285239 181377.71 C T PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.48343 0.48340 0.48170 None None None None None None ALB|0.999994036|0.04%

ALPK1
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 lb9428 final 4 rs2074388
dbSNP Clinvar 		113352397 276689.13 G A PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.62740 0.62740 0.34615 0.25 0.04 None None None None None None ALPK1|0.013394495|78.25%
View lb9428 final 4 rs13148353
dbSNP Clinvar 		113352628 296008.17 A G PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.65855 0.65850 0.31978 0.27 0.00 None None None None None None ALPK1|0.013394495|78.25%
View lb9428 final 4 rs2074379
dbSNP Clinvar 		113352899 291656.03 G A PASS 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.62680 0.62680 0.34623 0.34 0.00 None None None None None None ALPK1|0.013394495|78.25%
View lb9428 final 4 rs11726117
dbSNP Clinvar 		113353285 247746.31 T C PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.65855 0.65850 0.31931 0.44 0.00 None None None None None None ALPK1|0.013394495|78.25%
View lb9428 final 4 rs231247
dbSNP Clinvar 		113359703 280530.34 A G PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.66134 0.66130 0.32001 None None None None None None ALPK1|0.013394495|78.25%

AMTN
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 lb9428 final 4 rs17676820
dbSNP Clinvar 		71396989 102972.5 C T PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.27376 0.27380 0.35330 None None None None None None AMTN|0.018262621|75.13%

ANAPC4
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 lb9428 final 4 rs9174
dbSNP Clinvar 		25419283 403753.29 T C PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.50240 0.50240 0.39782 None None None None None None ANAPC4|0.398023643|20.91%
View lb9428 final 4 rs34015658
dbSNP Clinvar 		25398292 1419.38 G C GQ30.00;TruthSensitivityTranche99.90to100.00 0/1 69 SYNONYMOUS_CODING LOW None 0.04433 None None None None None None ANAPC4|0.398023643|20.91%

ANK2
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 lb9428 final 4 rs199527708
dbSNP Clinvar 		114275283 2626.33 G A PASS 0/1 220 NON_SYNONYMOUS_CODING MODERATE None 0.00031 0.03 None None None None None None ANK2|0.34993042|24.11%

ANKRD17
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 lb9428 final 4 rs6855349
dbSNP Clinvar 		73956736 274528.94 G A PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.35184 0.35180 0.36921 None None None None None None ANKRD17|0.584903468|12.36%
View lb9428 final 4 rs139342353
dbSNP Clinvar 		74124302 115.92 G GC DP10;GQ30.00;TruthSensitivityTranche99.90to100.00 1/1 1 FRAME_SHIFT HIGH None None None None None None None ANKRD17|0.584903468|12.36%
View lb9428 final 4 rs6822576
dbSNP Clinvar 		73991006 369135.18 T C PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.99740 0.99740 0.00369 None None None None None None ANKRD17|0.584903468|12.36%

ANTXR2
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 lb9428 final 4 rs556120147
dbSNP Clinvar 		80905989 29890.45 GC G TruthSensitivityTranche99.90to100.00 1/1 67 FRAME_SHIFT HIGH None 0.00100 0.00100 None None None None None None ANTXR2|0.866348045|4.33%
View lb9428 final 4 rs12647691
dbSNP Clinvar 		80905990 133278.76 C G PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.80272 0.80270 0.28982 1.00 0.00 None None None None None None ANTXR2|0.866348045|4.33%

ANXA10
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 lb9428 final 4 rs6836994
dbSNP Clinvar 		169083694 141546.73 A C PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.53315 0.53310 0.37214 1.00 0.00 None None None None None None ANXA10|0.100130698|51.14%
View lb9428 final 4 rs114905136
dbSNP Clinvar 		169083757 4157.23 C T PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.00419 0.00419 0.01238 None None None None None None ANXA10|0.100130698|51.14%
View lb9428 final 4 rs4405979
dbSNP Clinvar 		169086441 161361.16 A G PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.37204 None None None None None None ANXA10|0.100130698|51.14%

APBB2
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 lb9428 final 4 rs2292234
dbSNP Clinvar 		41015823 314472.24 G A TruthSensitivityTranche99.00to99.90 1/1 248 SYNONYMOUS_CODING LOW None 0.13259 0.30730 0.18615 None None None None None None APBB2|0.401070014|20.7%
View lb9428 final 4 rs4861358
dbSNP Clinvar 		41015899 651064.37 C T PASS 1/1 193 NON_SYNONYMOUS_CODING MODERATE None 0.67412 0.67410 0.34970 0.65 0.00 None None None None None None APBB2|0.401070014|20.7%

ARAP2
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 lb9428 final 4 rs4833069
dbSNP Clinvar 		36081878 213928.74 C T PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.99521 0.99520 0.00746 0.80 0.00 None None None None None None ARAP2|0.117132933|47.92%
View lb9428 final 4 rs7657166
dbSNP Clinvar 		36069805 96091.94 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.15535 0.15540 0.23674 None None None None None None ARAP2|0.117132933|47.92%

ARHGAP10
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 lb9428 final 4 rs35975487
dbSNP Clinvar 		148944467 18785.42 A G PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.11901 0.11900 0.05205 None None None None None None ARHGAP10|0.210937022|35.45%

ARHGEF38
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 lb9428 final 4 rs6533206
dbSNP Clinvar 		106474096 199822.18 T C PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.99980 0.99980 None None None None None None ARHGEF38|0.075305724|56.22%

ART3
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 lb9428 final 4 rs1128864
dbSNP Clinvar 		77033590 108496.37 C T PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.48383 0.48380 0.37260 0.05 0.02 None None None None None None ART3|0.030297824|69.28%

ASB5
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 lb9428 final 4 rs6827525
dbSNP Clinvar 		177137988 225642.63 C T PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.51558 0.51560 0.48324 None None None None None None ASB5|0.082309685|54.71%

ASIC5
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 lb9428 final 4 rs6848883
dbSNP Clinvar 		156787340 507550.48 G A PASS 0/1 171 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84844 0.84840 0.16333 None None None None None None ASIC5|0.031479338|68.79%,TDO2|0.067292674|58.09%

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 lb9428 final 4 rs4145944
dbSNP Clinvar 		47593283 312700.44 G C PASS 0/1 209 NON_SYNONYMOUS_CODING MODERATE None 0.37700 0.37700 0.43957 1.00 0.00 None None None None None None ATP10D|0.06998296|57.49%
View lb9428 final 4 rs7683838
dbSNP Clinvar 		47525054 24080.96 T C PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.09285 0.09285 0.13986 0.48 0.06 None None None None None None ATP10D|0.06998296|57.49%
View lb9428 final 4 rs33995001
dbSNP Clinvar 		47514685 137070.83 C T PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.30491 0.30490 0.38967 0.05 0.07 None None None None None None ATP10D|0.06998296|57.49%
View lb9428 final 4 rs34208443
dbSNP Clinvar 		47560002 65634.93 C A PASS 0/1 52 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%

BANK1
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 lb9428 final 4 rs3113676
dbSNP Clinvar 		102965043 800387.85 T C PASS 1/1 189 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00938 0.40 0.00 None None None None None None BANK1|0.027814487|70.51%

BBS12
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 lb9428 final 4 rs309370
dbSNP Clinvar 		123664204 89422.96 G A PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.50639 0.50640 0.41381 0.35 0.00 None None None None None None BBS12|0.010536417|80.48%
View lb9428 final 4 rs309371
dbSNP Clinvar 		123664247 4203.07 G A PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.09265 0.09265 0.10611 None None None None None None BBS12|0.010536417|80.48%

BDH2
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 lb9428 final 4 rs201463191
dbSNP Clinvar 		104016362 1097.68 G A PASS 0/1 74 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00020 0.00020 0.00015 0.04 0.02 None None None None None None BDH2|0.077160545|55.86%
View lb9428 final 4 rs79460377
dbSNP Clinvar 		104004064 39805.12 T C PASS 0/1 142 SYNONYMOUS_CODING LOW None 0.02256 0.02256 0.05251 None None None None None None SLC9B2|0.023717842|72.32%,BDH2|0.077160545|55.86%

BMP2K
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 lb9428 final 4 rs12507099
dbSNP Clinvar 		79832706 149358.05 C G TruthSensitivityTranche99.00to99.90 0/1 233 NON_SYNONYMOUS_CODING MODERATE None 0.10883 0.10880 0.06833 0.06 0.18 None None None None None None BMP2K|0.123580091|46.87%,PAQR3|0.263388599|30.44%

BMP3
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 lb9428 final 4 rs6831040
dbSNP Clinvar 		81967188 1086136.13 C T PASS 1/1 236 NON_SYNONYMOUS_CODING MODERATE None 0.99880 0.99880 0.00108 0.04 0.15 None None None None None None BMP3|0.245532193|31.98%

BOD1L1
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 lb9428 final 4 rs2035820
dbSNP Clinvar 		13615174 97300.9 G A PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.13738 0.13740 0.15270 0.00 None None None None None None BOD1L1|0.019781318|74.3%
View lb9428 final 4 rs1971278
dbSNP Clinvar 		13606576 792327.56 A T PASS 1/1 211 NON_SYNONYMOUS_CODING MODERATE None 0.72424 0.72420 0.33646 0.00 None None None None None None BOD1L1|0.019781318|74.3%
View lb9428 final 4 rs17745712
dbSNP Clinvar 		13604418 131555.83 G C PASS 0/1 242 NON_SYNONYMOUS_CODING MODERATE None 0.13878 0.13880 0.15462 0.00 None None None None None None BOD1L1|0.019781318|74.3%
View lb9428 final 4 rs17745676
dbSNP Clinvar 		13604182 137210.76 T C PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE None 0.13279 0.13280 0.14993 0.03 None None None None None None BOD1L1|0.019781318|74.3%
View lb9428 final 4 rs3733557
dbSNP Clinvar 		13601337 156052.09 G A PASS 0/1 209 NON_SYNONYMOUS_CODING MODERATE None 0.10863 0.10860 0.10941 0.00 None None None None None None BOD1L1|0.019781318|74.3%
View lb9428 final 4 . 13606574 4666.45 TA T GQ30.00;TruthSensitivityTranche99.90to100.00 0/1 210 FRAME_SHIFT HIGH None None None None None None None BOD1L1|0.019781318|74.3%

BTC
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 lb9428 final 4 rs11938093
dbSNP Clinvar 		75675841 214207.59 A T PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE None 0.19988 0.19990 0.26703 0.00 0.99 None None None None None None BTC|0.03501421|67.46%

C4orf17
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 lb9428 final 4 rs13119384
dbSNP Clinvar 		100443782 58700.96 T C PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.57528 0.57530 0.40827 1.00 0.00 None None None None None None C4orf17|0.007285279|83.23%
View lb9428 final 4 rs13143848
dbSNP Clinvar 		100443720 89915.24 G A PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.31430 0.31430 0.31739 0.37 0.08 None None None None None None C4orf17|0.007285279|83.23%

C4orf21
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 lb9428 final 4 rs17605622
dbSNP Clinvar 		113482146 45132.65 G A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.03734 0.03734 0.07256 0.69 0.03 None None None None None None ZGRF1|0.009414911|81.37%
View lb9428 final 4 rs17669218
dbSNP Clinvar 		113524723 29963.52 G A PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.03674 0.03674 0.07243 0.01 0.01 None None None None None None ZGRF1|0.009414911|81.37%

C4orf22
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 lb9428 final 4 rs2867782
dbSNP Clinvar 		81529518 413483.26 T C PASS 1/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.95687 0.95690 0.83 0.00 None None None None None None C4orf22|0.322733711|25.98%
View lb9428 final 4 rs1052325
dbSNP Clinvar 		81884722 227783.22 G A PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.81050 0.81050 0.22293 0.71 0.00 None None None None None None C4orf22|0.322733711|25.98%

C4orf26
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 lb9428 final 4 rs2306175
dbSNP Clinvar 		76489345 95992.12 C T PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.24361 0.24360 0.25896 0.09 0.77 None None None None None None C4orf26|0.002225937|90.35%
View lb9428 final 4 . 76489475 1537.49 T C PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.26 0.29 None None None None None None C4orf26|0.002225937|90.35%

C4orf27
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 lb9428 final 4 rs1047642
dbSNP Clinvar 		170663235 334914.34 C T PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.78954 0.78950 0.21852 1.00 0.00 None None None None None None C4orf27|0.233972721|33.01%
View lb9428 final 4 rs11540095
dbSNP Clinvar 		170678993 22693.52 T C DP10;GQ30.00 1/1 6 SYNONYMOUS_CODING LOW None 0.77736 0.77740 0.22341 None None None None None None C4orf27|0.233972721|33.01%

C4orf3
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 lb9428 final 4 . 120225567 1101.08 T C PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None C4orf3|0.001253743|94.14%

C4orf32
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 lb9428 final 4 rs10002700
dbSNP Clinvar 		113066831 9561.17 G A DP10;GQ30.00 1/1 1 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00283 1.00 0.00 None None None None None None C4orf32|0.064051223|58.88%

C4orf33
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 lb9428 final 4 rs337277
dbSNP Clinvar 		130030652 258996.56 A G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.69509 0.69510 0.30263 1.00 0.00 None None None None None None C4orf33|0.075968961|56.1%

C4orf36
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 lb9428 final 4 rs28664715
dbSNP Clinvar 		87809025 10313.01 T C PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.03754 0.03754 0.06574 0.00 0.97 None None None None None None C4orf36|0.004973554|85.85%
View lb9428 final 4 rs1550931
dbSNP Clinvar 		87809387 420399.39 G T PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.88339 0.88340 0.09365 1.00 0.00 None None None None None None C4orf36|0.004973554|85.85%

C4orf40
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 lb9428 final 4 rs138334849
dbSNP Clinvar 		71024481 809.17 A G GQ30.00;TruthSensitivityTranche99.00to99.90 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.00 None None None None None None PRR27|0.000141121|99.88%
View lb9428 final 4 rs149632408
dbSNP Clinvar 		71024485 1306.16 A C PASS 0/1 55 SYNONYMOUS_CODING LOW None None None None None None None PRR27|0.000141121|99.88%
View lb9428 final 4 rs542201615
dbSNP Clinvar 		71024473 563.72 T A TruthSensitivityTranche99.00to99.90 0/1 53 SYNONYMOUS_CODING LOW None None None None None None None PRR27|0.000141121|99.88%

C4orf45
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 lb9428 final 4 rs9784569
dbSNP Clinvar 		159881479 76249.7 T C PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.20268 0.20270 0.23972 None None None None None None C4orf45|0.003496909|87.79%
View lb9428 final 4 rs662473
dbSNP Clinvar 		159894305 540698.3 T C PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.98103 0.98100 0.01700 1.00 0.00 None None None None None None C4orf45|0.003496909|87.79%
View lb9428 final 4 rs17037858
dbSNP Clinvar 		159894277 10414.04 T C PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.08267 0.08267 0.04027 0.09 0.21 None None None None None None C4orf45|0.003496909|87.79%
View lb9428 final 4 rs619128
dbSNP Clinvar 		159894250 597931.73 C T PASS 1/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.97863 0.97860 0.02086 1.00 0.00 None None None None None None C4orf45|0.003496909|87.79%

C4orf48
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 lb9428 final 4 rs570712
dbSNP Clinvar 		2044128 7392.31 C T DP10;GQ30.00 1/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.99281 0.99280 1.00 0.00 None None None None None None C4orf48|0.010842579|80.21%

C4orf50
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 lb9428 final 4 rs16837960
dbSNP Clinvar 		5975538 154547.74 G A PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.52296 0.52300 0.43049 0.09 0.05 None None None None None None C4orf50|0.000584752|98.01%
View lb9428 final 4 rs6839295
dbSNP Clinvar 		5966801 87876.13 T C PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.27616 0.27620 0.32685 1.00 0.00 None None None None None None C4orf50|0.000584752|98.01%

CABS1
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 lb9428 final 4 rs1351419
dbSNP Clinvar 		71201388 309994.54 C T PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.92352 0.92350 0.09589 0.48 0.00 None None None None None None CABS1|0.003869686|87.19%

CAMK2D
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 lb9428 final 4 rs11098193
dbSNP Clinvar 		114429407 19003.69 C T PASS 0/1 19 None None None 0.12899 0.12900 0.17856 None None None None None None CAMK2D|0.555048734|13.51%

CBR4
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 lb9428 final 4 rs2877380
dbSNP Clinvar 		169928842 189352.13 G T PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.72005 0.72000 0.33264 0.22 0.01 None None None None None None CBR4|0.148986414|43.14%

CCDC109B
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 lb9428 final 4 rs3733611
dbSNP Clinvar 		110603784 321566.44 T C PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.69429 0.69430 0.28402 None None None None None None CCDC109B|0.014014782|77.87%

CCDC110
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 lb9428 final 4 rs7687202
dbSNP Clinvar 		186379371 354503.87 G A PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.97744 0.97740 0.02553 None None None None None None CCDC110|0.025241211|71.69%

CCDC158
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 lb9428 final 4 rs17001890
dbSNP Clinvar 		77305346 88535.8 A G PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.22684 0.22680 0.26627 None None None None None None CCDC158|0.159387055|41.66%

CCDC96
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 lb9428 final 4 rs871133
dbSNP Clinvar 		7044357 30298.07 A G DP10;GQ30.00 1/1 7 SYNONYMOUS_CODING LOW None 0.96506 0.96510 0.03329 None None None None None None CCDC96|0.002891938|88.85%,TADA2B|0.090242026|53.19%
View lb9428 final 4 rs2359010
dbSNP Clinvar 		7044600 12989.46 G A PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.19529 0.19530 0.13272 None None None None None None CCDC96|0.002891938|88.85%,TADA2B|0.090242026|53.19%
View lb9428 final 4 rs871134
dbSNP Clinvar 		7044380 13420.89 C T DP10;GQ30.00 1/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.51138 0.51140 0.37873 0.04 0.00 None None None None None None CCDC96|0.002891938|88.85%,TADA2B|0.090242026|53.19%