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+ Genes 431

Genes:
ABCA1, ABCA2, ABL1, ACER2, ACO1, ACTL7B, ADAMTS13, ADAMTSL1, ADAMTSL2, AGTPBP1, AIF1L, AK1, AK8, AKNA, AL358113.1, AL360004.1, ALDH1B1, ANGPTL2, ANKRD18A, ANKRD18B, ANKS6, ANXA1, APBA1, AQP3, AQP7, ARID3C, ASB6, ASPN, ASTN2, BAAT, BAG1, BNC2, BRD3, BRINP1, BSPRY, C5, C8G, C9orf114, C9orf116, C9orf117, C9orf129, C9orf131, C9orf135, C9orf139, C9orf141, C9orf147, C9orf152, C9orf156, C9orf169, C9orf171, C9orf172, C9orf173, C9orf24, C9orf3, C9orf38, C9orf40, C9orf43, C9orf47, C9orf50, C9orf57, C9orf62, C9orf66, C9orf78, C9orf84, C9orf89, C9orf96, CA9, CAAP1, CACFD1, CACNA1B, CAMSAP1, CARD9, CBWD1, CCDC107, CCDC171, CCDC180, CCDC183, CCIN, CDC14B, CDK5RAP2, CEL, CEP78, CER1, CERCAM, CIZ1, CNTLN, CNTNAP3, CNTNAP3B, CNTRL, COL15A1, COL27A1, COL5A1, COQ4, CORO2A, CRAT, CRB2, DAB2IP, DAPK1, DBH, DDX31, DDX58, DEC1, DENND1A, DENND4C, DFNB31, DMRT1, DMRT2, DMRT3, DMRTA1, DNAI1, DNAJA1, DNAJB5, DNAJC25, DNLZ, DNM1, DOCK8, DOLK, DOLPP1, DPH7, DPP7, ECM2, EHMT1, ENDOG, ENG, ENTPD2, ENTPD8, EPB41L4B, EQTN, ERMP1, EXD3, EXOSC3, FAM120A, FAM120AOS, FAM154A, FAM189A2, FAM205A, FAM214B, FAM69B, FAM78A, FANCG, FBP1, FBP2, FCN1, FCN2, FGD3, FIBCD1, FKBP15, FKTN, FNBP1, FOCAD, FOXD4, FOXE1, FPGS, FREM1, FRMPD1, FUT7, FXN, GABBR2, GAPVD1, GBGT1, GLDC, GLE1, GLIPR2, GLIS3, GLT6D1, GNA14, GNE, GOLGA1, GOLGA2, GOLM1, GPR107, GPR144, GPSM1, GRHPR, GRIN3A, GTF3C4, GTF3C5, GVQW1, HABP4, HAUS6, HDHD3, HEMGN, HIATL2, HMCN2, HRCT1, HSDL2, IARS, IDNK, IFNA1, IFNK, IFNW1, IKBKAP, INPP5E, INSL4, INVS, IZUMO3, JAK2, KANK1, KCNT1, KCNV2, KDM4C, KIAA0020, KIAA0368, KIAA1161, KIAA1432, KIAA2026, KIF24, KIF27, LAMC3, LCN12, LCN15, LCNL1, LHX2, LHX6, LMX1B, LRRC26, LRRC8A, LRSAM1, LURAP1L, MAMDC2, MAMDC4, MAN1B1, MAPKAP1, MEGF9, MELK, MLANA, MPDZ, MUSK, MVB12B, NACC2, NAIF1, NANS, NCBP1, NCS1, NDOR1, NEK6, NELFB, NFX1, NINJ1, NIPSNAP3A, NIPSNAP3B, NMRK1, NOL6, NOL8, NOTCH1, NPDC1, NPR2, NR4A3, NR5A1, NR6A1, NRARP, NTMT1, NTNG2, NUP214, NUTM2F, NUTM2G, OBP2A, ODF2, OLFM1, OLFML2A, OR13C2, OR13C5, OR13C8, OR13C9, OR13F1, OR13J1, OR1B1, OR1J1, OR1J2, OR1K1, OR1L1, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, OR2S2, ORM1, ORM2, PALM2-AKAP2, PAPPA, PAPPA-AS1, PAX5, PCSK5, PDCD1LG2, PGM5, PHF2, PIGO, PKN3, PLIN2, PMPCA, PNPLA7, POLR1E, POMT1, PPAPDC3, PPP1R26, PPP2R4, PRPF4, PRRC2B, PRSS3, PRUNE2, PSAT1, PSIP1, PTBP3, PTCH1, PTGDS, PTGES2, PTGR1, PTGS1, PTPN3, PTPRD, QRFP, QSOX2, RABL6, RAD23B, RALGDS, RANBP6, RASEF, RC3H2, REXO4, RGS3, RLN1, RMI1, RNF183, RNF224, ROR2, RORB, RP11-295D22.1, RPS6, RUSC2, SAPCD2, SARDH, SCAI, SDCCAG3, SEC16A, SETX, SH2D3C, SHB, SHC3, SIGMAR1, SLC1A1, SLC24A2, SLC25A25, SLC28A3, SLC2A6, SLC2A8, SLC31A1, SLC34A3, SLC44A1, SLC46A2, SMARCA2, SMC2, SMC5, SNAPC4, SNX30, SOHLH1, SPAG8, SPATA31D1, SPATA31E1, SPATA6L, SPINK4, SPTAN1, ST6GALNAC6, STOML2, STRBP, SURF2, SURF6, SUSD1, SVEP1, TAF1L, TBC1D13, TBC1D2, TDRD7, TEK, TESK1, TJP2, TLE1, TLE4, TLN1, TMC1, TMEM2, TMEM245, TMEM8C, TNC, TNFSF15, TNFSF8, TOR1A, TOR2A, TPD52L3, TPM2, TPRN, TRAF1, TRAF2, TRMT10B, TRPM3, TRPM6, TSTD2, TTC16, TTC39B, TTF1, TTLL11, TUSC1, UAP1L1, UBAC1, UBAP2, UBQLN1, UCK1, USP20, VAV2, VPS13A, WDR31, WDR34, WDR38, WDR5, WNK2, ZBTB43, ZBTB5, ZCCHC6, ZDHHC12, ZDHHC21, ZER1, ZFAND5, ZFP37, ZNF169, ZNF462, ZNF510, ZNF618, ZNF658, ZNF782, ZNF79,

+ Genes associated with diseases 91

Genes at Omim

ABCA1, ABL1, ADAMTS13, ADAMTSL2, AGTPBP1, AK1, ANKS6, AQP3, AQP7, ASPN, BAAT, C5, CACNA1B, CARD9, CDK5RAP2, CEL, CEP78, COL27A1, COL5A1, COQ4, CRAT, CRB2, DBH, DDX58, DNAI1, DNM1, DOCK8, DOLK, EHMT1, ENG, EXOSC3, FBP1, FKTN, FOXE1, FREM1, FXN, GABBR2, GLDC, GLE1, GLIS3, GNE, GRHPR, IARS, IFNA1, IKBKAP, INPP5E, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MUSK, NANS, NOTCH1, NPR2, NR5A1, NUP214, PAX5, PIGO, PMPCA, POMT1, PRPF4, PSAT1, PTCH1, ROR2, RORB, RUSC2, SARDH, SETX, SIGMAR1, SLC1A1, SLC34A3, SMARCA2, SOHLH1, SPTAN1, TDRD7, TEK, TJP2, TMC1, TNC, TPM2, TPRN, TRPM6, VPS13A, WDR34,
ABCA1 HDL deficiency, type 2, 604091 (3)
Tangier disease, 205400 (3)
{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
ABL1 Congenital heart defects and skeletal malformations syndrome, 617602 (3)
Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTSL2 Geleophysic dysplasia 1, 231050 (3)
AGTPBP1 Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 (3)
AK1 Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
ANKS6 Nephronophthisis 16, 615382 (3)
AQP3 [Blood group GIL], 607457 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
BAAT Hypercholanemia, familial, 607748 (3)
C5 C5 deficiency, 609536 (3)
[Eculizumab, poor response to], 615749 (3)
CACNA1B ?Dystonia 23, 614860 (3)
CARD9 Candidiasis, familial, 2, autosomal recessive, 212050 (3)
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)
CEL Maturity-onset diabetes of the young, type VIII, 609812 (3)
CEP78 Cone-rod dystrophy and hearing loss, 617236 (3)
COL27A1 Steel syndrome, 615155 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COQ4 Coenzyme Q10 deficiency, primary, 7, 616276 (3)
CRAT ?Neurodegeneration with brain iron accumulation 8, 617917 (3)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
DBH Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DDX58 Singleton-Merten syndrome 2, 616298 (3)
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
DNM1 Epileptic encephalopathy, early infantile, 31, 616346 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DOLK Congenital disorder of glycosylation, type Im, 610768 (3)
EHMT1 Kleefstra syndrome 1, 610253 (3)
ENG Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
FBP1 Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FKTN Cardiomyopathy, dilated, 1X, 611615 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4, 613152 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588 (3)
FOXE1 Bamforth-Lazarus syndrome, 241850 (3)
{Thyroid cancer, nonmedullary, 4}, 616534 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FXN Friedreich ataxia with retained reflexes, 229300 (3)
Friedreich ataxia, 229300 (3)
GABBR2 {Nicotine dependence, protection against}, 188890 (3)
{Nicotine dependence, susceptibility to}, 188890 (3)
Epileptic encephalopathy, early infantile, 59, 617904 (3)
Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3)
GLDC Glycine encephalopathy, 605899 (3)
GLE1 Congenital arthrogryposis with anterior horn cell disease, 611890 (3)
Lethal congenital contracture syndrome 1, 253310 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GNE Nonaka myopathy, 605820 (3)
Sialuria, 269921 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
IARS Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3)
IFNA1 Interferon, alpha, deficiency (1)
IKBKAP Dysautonomia, familial, 223900 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
INVS Nephronophthisis 2, infantile, 602088 (3)
JAK2 Leukemia, acute myeloid, somatic, 601626 (3)
Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600880 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNT1 Epilepsy, nocturnal frontal lobe, 5, 615005 (3)
Epileptic encephalopathy, early infantile, 14, 614959 (3)
KCNV2 Retinal cone dystrophy 3B, 610356 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
LMX1B Nail-patella syndrome, 161200 (3)
LRRC8A ?Agammaglobulinemia 5, 613506 (3)
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P, 614436 (3)
MAN1B1 Mental retardation, autosomal recessive 15, 614202 (3)
MPDZ Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)
MUSK Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
NANS Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3)
NOTCH1 Adams-Oliver syndrome 5, 616028 (3)
Aortic valve disease 1, 109730 (3)
NPR2 Epiphyseal chondrodysplasia, Miura type, 615923 (3)
Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Short stature with nonspecific skeletal abnormalities, 616255 (3)
NR5A1 Adrenocortical insufficiency, 612964 (3)
Premature ovarian failure 7, 612964 (3)
46, XX sex reversal 4, 617480 (3)
46XY sex reversal 3, 612965 (3)
Spermatogenic failure 8, 613957 (3)
NUP214 Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PIGO Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
PMPCA Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
PRPF4 Retinitis pigmentosa 70, 615922 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
PTCH1 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Holoprosencephaly 7, 610828 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
RORB {Epilepsy, idiopathic generalized, susceptibility to, 15}, 618357 (3)
RUSC2 Mental retardation, autosomal recessive 61, 617773 (3)
SARDH [Sarcosinemia], 268900 (3)
SETX Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SIGMAR1 ?Amyotrophic lateral sclerosis 16, juvenile, 614373 (3)
?Spinal muscular atrophy, distal, autosomal recessive, 2, 605726 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SOHLH1 Ovarian dysgenesis 5, 617690 (3)
Spermatogenic failure 32, 618115 (3)
SPTAN1 Epileptic encephalopathy, early infantile, 5, 613477 (3)
TDRD7 Cataract 36, 613887 (3)
TEK Glaucoma 3, primary congenital, E, 617272 (3)
Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TJP2 Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Hypercholanemia, familial, 607748 (3)
TMC1 Deafness, autosomal dominant 36, 606705 (3)
Deafness, autosomal recessive 7, 600974 (3)
TNC Deafness, autosomal dominant 56, 615629 (3)
TPM2 Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
CAP myopathy 2, 609285 (3)
Nemaline myopathy 4, autosomal dominant, 609285 (3)
TPRN Deafness, autosomal recessive 79, 613307 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
VPS13A Choreoacanthocytosis, 200150 (3)
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)

Genes at Clinical Genomics Database

ABCA1, ADAMTS13, ADAMTSL2, AK1, ANKS6, AQP3, BAAT, C5, CACNA1B, CARD9, CDK5RAP2, CEL, CIZ1, COL27A1, COL5A1, COQ4, CRB2, DBH, DDX58, DNAI1, DNM1, DOCK8, DOLK, EHMT1, ENG, EXOSC3, FANCG, FBP1, FKTN, FOXE1, FREM1, FXN, GLDC, GLE1, GLIS3, GNE, GRHPR, IKBKAP, INPP5E, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MUSK, NOTCH1, NPR2, NR5A1, PAX5, PIGO, PMPCA, POMT1, PRPF4, PSAT1, PTCH1, ROR2, SETX, SIGMAR1, SLC1A1, SLC34A3, SMARCA2, SPTAN1, TDRD7, TEK, TJP2, TMC1, TNC, TOR1A, TPM2, TPRN, TRPM6, VPS13A, WDR34,
ABCA1 ABCA1 deficiency
Tangier disease
HDL deficiency, type 2
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADAMTSL2 Geleophysic dysplasia 1
AK1 Adenylate kinase deficiency, hemolytic anemia due to
ANKS6 Nephronophthisis 16
AQP3 Blood group, GIL
BAAT Hypercholanemia, familial
C5 Eculizumab, poor response to
Complement component 5 deficiency
CACNA1B Dystonia 23
CARD9 Candidiasis, familial, 2
CDK5RAP2 Microcephaly, primary autosomal recessive, 3
CEL Maturity-onset diabetes of the young, type 8
CIZ1 Primary cervical dystonia, adult-onset
COL27A1 Steel syndrome
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COQ4 Coenzyme Q10 deficiency 7
CRB2 Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
DBH Dopamine beta-hydroxylase deficiency
DDX58 Singleton-Merten syndrome 2
DNAI1 Ciliary dyskinesia, primary, 1
DNM1 Epileptic encephalopathy, early infantile 31
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DOLK Congenital disorder of glycosylation, type Im
EHMT1 Kleefstra syndrome
ENG Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis syndrome
EXOSC3 Pontocerebellar hypoplasia type 1B
FANCG Fanconi anemia type G
FBP1 Fructose-1,6-bisphosphatase deficiency
FKTN Cardiomyopathy, dilated, 1X
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4
FOXE1 Thyroid cancer, nonmedullary 4
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Congenital hypothyroidism
FREM1 Bifid nose with or without anorectal and renal anomalies
Trigonocephaly 2
Manitoba oculotrichoanal syndrome
Congenital diaphragmatic hernia, autosomal recessive
FXN Friedreich ataxia
GLDC Glycine encephalopathy
GLE1 Arthrogryposis, lethal, with anterior horn cell disease
Lethal congenital contracture syndrome 1
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
GNE Sialuria, French type
Nonaka myopathy
Inclusion body myopathy, autosomal recessive
GRHPR Hyperoxaluria, primary, type II
IKBKAP Dysautonomia, familial
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
INVS Nephronophthisis 2
JAK2 Thrombocythemia 3
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNT1 Epilepsy, nocturnal frontal lobe, 5
Early infantile epileptic encephalopathy 14
KCNV2 Retinal cone dystrophy 3B
LAMC3 Cortical malformations, occipital
LMX1B Nail-patella syndrome
LRRC8A Agammaglobulinemia 5
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P
MAN1B1 Mental retardation, autosomal recessive 15
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2
MUSK Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
NOTCH1 Aortic valve disease
NPR2 Epiphyseal chondrodysplasia, Miura type
Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia, Maroteaux type
NR5A1 Adrenocortical insufficiency
46, XY sex reversal, 3
Premature ovarian failure 7
PAX5 Pre-B cell acute lymphoblastic leukemia
PIGO Hyperphosphatasia with mental retardation syndrome 2
PMPCA Spinocerebellar ataxia, autosomal recessive 2
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
PRPF4 Retinitis pigmentosa 70
PSAT1 Phosphoserine aminotransferase deficiency
PTCH1 Basal cell nevus syndrome
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
SETX Spinocerebellar ataxia, autosomal recessive 1
Amyotrophic lateral sclerosis 4, juvenile
Ataxia with oculomotor apraxia, type 2
SIGMAR1 Amyotrophic lateral sclerosis 16, juvenile
Frontotemporal lobar degeneration-motor neuron disease
Spinal muscular atrophy, distal, autosomal recessive, 2
SLC1A1 Dicarboxylic aminoaciduria
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SMARCA2 Nicolaides-Baraitser syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5
TDRD7 Cataract, autosomal recessive congenital 4
TEK Venous malformations, multiple cutaneous and mucosal
TJP2 Hypercholanemia, familial
Cholestasis, progressive familial intrahepatic 4
TMC1 Deafness, autosomal recessive 7
TNC Deafness, autosomal dominant 56
TOR1A Dystonia 1, torsion
TPM2 Nemaline myopathy 4
CAP myopathy
Arthrogryposis, distal, type 1A
Arthrogryposis, distal, type 2B
TPRN Deafness, autosomal recessive 79
TRPM6 Hypomagnesemia 1, intestinal
VPS13A Choreoacanthocytosis
WDR34 Short -rib thoracic dysplasia 11 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 10061
Number of Genes: 431

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  • Page 1 of 101

ABCA1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2853579
dbSNP Clinvar 		107591272 539.77 G T . 0/1 47 SYNONYMOUS_CODING LOW None 0.33906 0.33910 0.22413 None None None None None None ABCA1|0.668333708|9.43%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2230808
dbSNP Clinvar 		107562804 877.77 T C . 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.53834 0.53830 0.41496 0.61 0.03 None None None None None None ABCA1|0.668333708|9.43%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2066714
dbSNP Clinvar 		107586753 368.77 T C . 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.35683 0.35680 0.24596 0.28 0.00 None None None None None None ABCA1|0.668333708|9.43%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2230806
dbSNP Clinvar 		107620867 975.77 C T . 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.43970 0.43970 0.39151 0.66 0.00 None None None None None None ABCA1|0.668333708|9.43%

ABCA2
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs35590326
dbSNP Clinvar 		139916833 765.77 T G . 0/1 55 SYNONYMOUS_CODING LOW None 0.09185 0.09185 0.11928 None None None None None None ABCA2|0.074227496|56.47%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs908828
dbSNP Clinvar 		139913239 2260.77 T G . 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00008 1.00 0.00 None None None None None None ABCA2|0.074227496|56.47%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs12348881
dbSNP Clinvar 		139911983 730.77 T G . 0/1 63 SYNONYMOUS_CODING LOW None 0.10443 0.10440 0.12916 None None None None None None ABCA2|0.074227496|56.47%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs4880189
dbSNP Clinvar 		139923265 960.77 A G . 0/1 84 None None None 0.76657 0.76660 0.22882 None None None None None None ABCA2|0.074227496|56.47%,C9orf139|0.000737675|97.09%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs908832
dbSNP Clinvar 		139912484 3780.77 A G . 1/1 112 SYNONYMOUS_CODING LOW None 0.96386 0.96390 0.03809 None None None None None None ABCA2|0.074227496|56.47%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs200994843
dbSNP Clinvar 		139912049 1368.77 G A . 0/1 99 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00062 None None None None None None ABCA2|0.074227496|56.47%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs7048567
dbSNP Clinvar 		139904037 884.77 A G . 0/1 89 SYNONYMOUS_CODING LOW None 0.72005 0.72000 0.29152 None None None None None None ABCA2|0.074227496|56.47%

ABL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs1056171
dbSNP Clinvar 		133761001 3569.77 A G . 1/1 105 SYNONYMOUS_CODING LOW None 0.65415 0.65420 0.41512 None None None None None None ABL1|0.915754224|3.1%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs145076561
dbSNP Clinvar 		133759668 2249.77 A G . 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.00054 0.22 0.00 None None None None None None ABL1|0.915754224|3.1%

ACER2
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs10122075
dbSNP Clinvar 		19409107 948.77 C A . 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.00499 0.00499 0.00563 0.38 0.05 None None None None None None ACER2|0.18721458|38.16%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs7855739
dbSNP Clinvar 		19450598 1178.77 G C . 0/1 95 SYNONYMOUS_CODING LOW None 0.07488 0.07488 0.07935 None None None None None None ACER2|0.18721458|38.16%

ACO1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs34319839
dbSNP Clinvar 		32425898 1110.77 T C . 0/1 106 SYNONYMOUS_CODING LOW None 0.04054 0.04054 0.04575 None None None None None None ACO1|0.412115925|20.03%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs35370505
dbSNP Clinvar 		32427396 1070.77 A G . 0/1 71 SYNONYMOUS_CODING LOW None 0.05371 0.05371 0.05444 None None None None None None ACO1|0.412115925|20.03%

ACTL7B
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs3750467
dbSNP Clinvar 		111617341 1223.77 A G . 0/1 98 SYNONYMOUS_CODING LOW None 0.12820 0.12820 0.10661 None None None None None None ACTL7B|0.043315867|64.73%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs34113222
dbSNP Clinvar 		111618106 903.77 C T . 0/1 65 SYNONYMOUS_CODING LOW None 0.04633 0.04633 0.04698 None None None None None None ACTL7B|0.043315867|64.73%

ADAMTS13
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs685523
dbSNP Clinvar 		136310908 867.77 C T . 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.07648 0.07648 0.11295 0.87 0.00 None None None None None None ADAMTS13|0.009367264|81.4%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs36222580
dbSNP Clinvar 		136319663 974.77 G A . 0/1 55 SYNONYMOUS_CODING LOW None 0.00240 0.00240 0.00315 None None None None None None ADAMTS13|0.009367264|81.4%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs1055432
dbSNP Clinvar 		136324239 594.77 C A . 0/1 46 SYNONYMOUS_CODING LOW None 0.23063 0.23060 0.24731 None None None None None None ADAMTS13|0.009367264|81.4%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2301612
dbSNP Clinvar 		136301982 460.77 C G . 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.27157 0.27160 0.30130 1.00 0.00 None None rs2301612 5 Upshaw-Schulman_syndrome None ADAMTS13|0.009367264|81.4%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs36219561
dbSNP Clinvar 		136294889 1398.77 T C . 0/1 79 None None None 0.02296 0.02296 None None None None None None ADAMTS13|0.009367264|81.4%

ADAMTSL1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs61742718
dbSNP Clinvar 		18504868 896.77 A G . 0/1 75 SYNONYMOUS_CODING LOW None 0.01677 0.01677 0.01815 None None None None None None ADAMTSL1|0.674544897|9.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2277160
dbSNP Clinvar 		18504916 739.77 T A . 0/1 55 SYNONYMOUS_CODING LOW None 0.57089 0.57090 0.40643 None None None None None None ADAMTSL1|0.674544897|9.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2060363
dbSNP Clinvar 		18776819 902.77 G A . 0/1 65 SYNONYMOUS_CODING LOW None 0.05132 0.05132 0.05799 None None None None None None ADAMTSL1|0.674544897|9.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs1549986
dbSNP Clinvar 		18776840 2573.77 A C . 1/1 74 SYNONYMOUS_CODING LOW None 0.97205 0.97200 0.06223 None None None None None None ADAMTSL1|0.674544897|9.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs114419702
dbSNP Clinvar 		18777239 2740.77 C T . 0/1 176 SYNONYMOUS_CODING LOW None 0.02516 0.02516 0.01921 None None None None None None ADAMTSL1|0.674544897|9.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs7033684
dbSNP Clinvar 		18777368 2461.77 T C . 0/1 168 SYNONYMOUS_CODING LOW None 0.68930 0.68930 0.28568 None None None None None None ADAMTSL1|0.674544897|9.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs35525189,rs796576662
dbSNP Clinvar 		18826261 3001.73 GT G . 1/1 116 None None None None None None None None None ADAMTSL1|0.674544897|9.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs934472
dbSNP Clinvar 		18775810 1597.77 C A . 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.43570 0.43570 0.44970 0.36 0.00 None None None None None None ADAMTSL1|0.674544897|9.24%

ADAMTSL2
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2073874
dbSNP Clinvar 		136412170 763.77 C T . 0/1 70 SYNONYMOUS_CODING LOW None 0.72404 0.72400 0.12464 None None None None None None ADAMTSL2|0.0506365|62.46%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2073875
dbSNP Clinvar 		136412236 873.77 A T . 0/1 72 SYNONYMOUS_CODING LOW None 0.72464 0.72460 0.12448 None None None None None None ADAMTSL2|0.0506365|62.46%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2073876
dbSNP Clinvar 		136412255 625.77 A C . 0/1 57 SYNONYMOUS_CODING LOW None 0.72464 0.72460 0.12440 None None None None None None ADAMTSL2|0.0506365|62.46%

AGTPBP1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs10114347
dbSNP Clinvar 		88356743 118.81 A G . 0/1 7 SYNONYMOUS_CODING LOW None 0.43031 0.43030 None None None None None None AGTPBP1|0.262515075|30.52%

AIF1L
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2315075
dbSNP Clinvar 		133981629 987.77 T C . 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.26058 0.26060 0.52 0.00 None None None None None None AIF1L|0.265763061|30.2%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs353510
dbSNP Clinvar 		133996503 1375.77 T A . 0/1 91 None None None 0.64537 0.64540 None None None None None None AIF1L|0.265763061|30.2%

AK1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs913986
dbSNP Clinvar 		130630639 1285.77 A G . 1/1 40 SYNONYMOUS_CODING LOW None 0.99820 0.99820 0.00185 None None None None None None AK1|0.26080806|30.67%

AK8
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2231400
dbSNP Clinvar 		135753629 826.77 A G . 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.11721 0.11720 0.13158 0.94 0.00 None None None None None None AK8|0.035216111|67.44%,C9orf9|0.042512541|64.95%

AKNA
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs148856699
dbSNP Clinvar 		117099574 514.77 A G . 0/1 33 SYNONYMOUS_CODING LOW None 0.00579 0.00579 0.00592 None None None None None None AKNA|0.005369534|85.34%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2250242
dbSNP Clinvar 		117103973 242.77 A G . 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.61022 0.61020 0.40720 1.00 0.00 None None None None None None AKNA|0.005369534|85.34%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs73548990
dbSNP Clinvar 		117104368 527.77 G A . 0/1 37 SYNONYMOUS_CODING LOW None 0.02596 0.02596 0.02337 None None None None None None AKNA|0.005369534|85.34%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs62640057
dbSNP Clinvar 		117119235 581.77 C T . 0/1 57 SYNONYMOUS_CODING LOW None 0.01518 0.01518 0.01361 None None None None None None AKNA|0.005369534|85.34%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs143306790
dbSNP Clinvar 		117121888 385.77 A G . 0/1 89 SYNONYMOUS_CODING LOW None 0.00361 None None None None None None AKNA|0.005369534|85.34%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs3748177
dbSNP Clinvar 		117122202 1195.77 C T . 0/1 94 SYNONYMOUS_CODING LOW None 0.38998 0.39000 0.41865 None None None None None None AKNA|0.005369534|85.34%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs57108666
dbSNP Clinvar 		117124056 247.77 G A . 0/1 33 SYNONYMOUS_CODING LOW None 0.01478 0.01478 0.01330 None None None None None None AKNA|0.005369534|85.34%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs3748176
dbSNP Clinvar 		117124731 637.77 G A . 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.38419 0.38420 0.41504 0.01 0.14 None None None None None None AKNA|0.005369534|85.34%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs1265891
dbSNP Clinvar 		117110112 433.77 T C . 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.20986 0.20990 0.16741 1.00 0.00 None None None None None None AKNA|0.005369534|85.34%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs73551508
dbSNP Clinvar 		117111207 797.77 C T . 0/1 52 None None None 0.01817 0.01817 0.00 0.00 None None None None None None AKNA|0.005369534|85.34%

AL358113.1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs3812536
dbSNP Clinvar 		71869473 827.77 G A . 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.45667 0.45670 0.00 None None None None None None TJP2|0.24805836|31.7%

AL360004.1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs7870010
dbSNP Clinvar 		132904345 450.77 G A . 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.17292 0.17290 0.00 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs74994578
dbSNP Clinvar 		132904268 856.77 G A . 0/1 65 SYNONYMOUS_CODING LOW None 0.13798 0.13800 None None None None None None None

ALDH1B1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2228094
dbSNP Clinvar 		38395940 4688.77 T C . 1/1 141 SYNONYMOUS_CODING LOW None 0.93670 0.93670 0.07919 None None None None None None ALDH1B1|0.096225216|51.9%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2073478
dbSNP Clinvar 		38396065 2023.77 G T . 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.39497 0.39500 0.49669 0.00 0.06 None None None None None None ALDH1B1|0.096225216|51.9%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs4878199
dbSNP Clinvar 		38396502 2932.77 G A . 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.93850 0.93850 0.07812 1.00 0.00 None None None None None None ALDH1B1|0.096225216|51.9%

ANGPTL2
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2297866
dbSNP Clinvar 		129854199 680.77 G A . 0/1 56 SYNONYMOUS_CODING LOW None 0.29054 0.29050 0.36191 None None None None None None RALGPS1|0.437653651|18.81%,ANGPTL2|0.341353132|24.75%

ANKRD18A
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs12349568
dbSNP Clinvar 		38571130 1047.77 C A . 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.10024 0.10020 0.02 0.20 None None None None None None ANKRD18A|0.001240448|94.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs12341435
dbSNP Clinvar 		38575602 473.77 T G . 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.05511 0.05511 0.05366 0.65 0.00 None None None None None None ANKRD18A|0.001240448|94.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2799163
dbSNP Clinvar 		38588602 508.77 T C . 1/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.39217 0.39220 0.19 0.52 None None None None None None ANKRD18A|0.001240448|94.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2996347
dbSNP Clinvar 		38595886 6572.77 T C . 1/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.33187 0.33190 0.28024 0.22 0.00 None None None None None None ANKRD18A|0.001240448|94.24%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs1832313
dbSNP Clinvar 		38615698 601.77 C T . 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.42173 0.42170 0.41984 1.00 0.00 None None None None None None ANKRD18A|0.001240448|94.24%

ANKRD18B
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs3843933
dbSNP Clinvar 		33524684 293.77 G A . 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.75320 0.75320 1.00 0.23 None None None None None None ANKRD18B|0.001295646|93.93%

ANKS6
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs6415847
dbSNP Clinvar 		101533220 1363.77 C T . 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.87520 0.87520 0.03696 0.99 0.00 None None None None None None ANKS6|0.10473239|50.29%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs76903503
dbSNP Clinvar 		101558444 219.77 G A . 0/1 25 SYNONYMOUS_CODING LOW None 0.12380 0.12380 None None None None None None ANKS6|0.10473239|50.29%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs138948716
dbSNP Clinvar 		101558609 38.77 G A . 0/1 3 SYNONYMOUS_CODING LOW None 0.26597 0.26600 None None None None None None ANKS6|0.10473239|50.29%

ANXA1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs1050305
dbSNP Clinvar 		75775235 4018.77 A G . 1/1 125 SYNONYMOUS_CODING LOW None 0.14996 0.15000 0.12856 None None None None None None ANXA1|0.44031941|18.64%

APBA1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs34788368
dbSNP Clinvar 		72131577 1661.77 A C . 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.20328 0.20330 0.15325 1.00 0.00 None None None None None None APBA1|0.50040617|15.79%

AQP3
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2228332
dbSNP Clinvar 		33442952 976.77 G A . 1/1 28 SYNONYMOUS_CODING LOW None 0.65875 0.65870 0.35999 None None None None None None AQP3|0.497451011|15.96%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs591810
dbSNP Clinvar 		33447424 2514.77 C G . 1/1 74 SYNONYMOUS_CODING LOW None 0.74121 0.74120 0.25759 None None None None None None AQP3|0.497451011|15.96%

AQP7
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs79172651
dbSNP Clinvar 		33386167 167.77 G C . 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.00020 1.00 0.00 None None None None None None AQP7|0.012677613|78.76%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs74589499
dbSNP Clinvar 		33386430 33.77 C T . 0/1 55 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs74668961
dbSNP Clinvar 		33386465 56.77 A G . 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.71 None None None None None None AQP7|0.012677613|78.76%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs78695486
dbSNP Clinvar 		33386469 111.77 C T . 0/1 66 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None AQP7|0.012677613|78.76%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs77962308
dbSNP Clinvar 		33386510 217.77 C T . 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.02 None None None None None None AQP7|0.012677613|78.76%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs72707424
dbSNP Clinvar 		33386511 185.77 A G . 0/1 66 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs79202054
dbSNP Clinvar 		33386526 258.77 G A . 0/1 55 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None AQP7|0.012677613|78.76%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs642636
dbSNP Clinvar 		33395196 1491.77 A G . 1/1 45 None None None 0.99082 0.99080 0.00692 None None None None None None AQP7|0.012677613|78.76%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs73645286
dbSNP Clinvar 		33395216 106.77 T G . 0/1 31 None None None 0.00 0.00 None None None None None None AQP7|0.012677613|78.76%

ARID3C
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs3808869
dbSNP Clinvar 		34622389 1520.77 A C . 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.60244 0.60240 0.41558 0.68 0.00 None None None None None None ARID3C|0.102060317|50.79%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 . 34623663 1246.77 G T . 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ARID3C|0.102060317|50.79%

ASB6
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs2241247
dbSNP Clinvar 		132402908 1408.77 C G . 1/1 40 SYNONYMOUS_CODING LOW None 0.93490 0.93490 0.04060 None None None None None None ASB6|0.071590826|57.08%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs3739851
dbSNP Clinvar 		132400480 2143.77 G A . 0/1 171 SYNONYMOUS_CODING LOW None 0.46146 0.46150 0.47178 None None None None None None ASB6|0.071590826|57.08%

ASPN
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs4744132
dbSNP Clinvar 		95219597 3537.77 G A . 1/1 107 SYNONYMOUS_CODING LOW None 0.99101 0.99100 0.01261 None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs3078372,rs764248772,rs879047429,rs113747060
dbSNP Clinvar 		95237024 1978.73 C CTCA . 1/1 75 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ASTN2
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs7018569
dbSNP Clinvar 		119199820 1544.77 C G . 1/1 48 None None None 0.92213 0.92210 0.58 0.00 None None None None None None ASTN2|0.952118309|2.19%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 . 119449033 799.77 C T . 0/1 68 None None None 0.14 0.00 None None None None None None ASTN2|0.952118309|2.19%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs7863560
dbSNP Clinvar 		119495697 1389.77 T C . 1/1 39 SYNONYMOUS_CODING LOW None 0.99241 0.99240 0.00484 None None None None None None ASTN2|0.952118309|2.19%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs3761845
dbSNP Clinvar 		119770480 729.77 C T . 0/1 60 SYNONYMOUS_CODING LOW None 0.48982 0.48980 0.43357 None None None None None None ASTN2|0.952118309|2.19%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs7848630
dbSNP Clinvar 		120053776 1526.77 T C . 1/1 46 SYNONYMOUS_CODING LOW None 0.96466 0.96470 0.03360 None None None None None None ASTN2|0.952118309|2.19%

BAAT
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs1572983
dbSNP Clinvar 		104133628 1453.77 C T . 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.56290 0.56290 0.36860 0.44 0.04 None None None None None None BAAT|0.006993319|83.49%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs41281027
dbSNP Clinvar 		104130469 301.77 C G . 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.15520 0.16969 0.11 0.00 None None None None None None BAAT|0.006993319|83.49%

BAG1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs1071545
dbSNP Clinvar 		33264540 1303.77 C G . 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.97943 0.97940 0.01767 0.02 0.00 None None None None None None BAG1|0.038149666|66.39%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 . 33264290 1258.77 G C . 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.04 None None None None None None BAG1|0.038149666|66.39%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs77199588
dbSNP Clinvar 		33262141 1642.77 G C . 0/1 121 None None None 0.02496 0.02496 None None None None None None BAG1|0.038149666|66.39%

BNC2
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs116528562
dbSNP Clinvar 		16436375 1561.77 G A . 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.00339 0.00340 0.00492 1.00 0.00 None None None None None None BNC2|0.997136727|0.66%

BRD3
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs464826
dbSNP Clinvar 		136913355 2540.77 T C . 1/1 74 SYNONYMOUS_CODING LOW None 0.72504 0.72500 0.29230 None None None None None None BRD3|0.108368545|49.49%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs467387
dbSNP Clinvar 		136907005 1673.77 G A . 0/1 136 SYNONYMOUS_CODING LOW None 0.33546 0.33550 0.21194 None None None None None None BRD3|0.108368545|49.49%

BRINP1
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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs28453
dbSNP Clinvar 		121929575 1391.77 T C . 0/1 100 SYNONYMOUS_CODING LOW None 0.18630 0.18630 0.20183 None None None None None None BRINP1|0.722842706|7.9%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 9 rs35224314
dbSNP Clinvar 		121930388 1108.77 C T . 0/1 91 SYNONYMOUS_CODING LOW None 0.04193 0.04193 0.03967 None None None None None None BRINP1|0.722842706|7.9%
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