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+ Genes 374

Genes:
ABCA1, ABCA2, ABL1, ADAMTS13, ADAMTSL1, ADAMTSL2, AIF1L, AK1, AKNA, ALAD, ALDH1B1, ANAPC2, ANGPTL2, ANKRD18A, ANKRD18B, ANKS6, AQP3, AQP7, ARHGEF39, ARRDC1, ASB6, ASPN, ASTN2, BAAT, BAG1, BARX1, BRD3, BRINP1, BSPRY, C5, C8G, C9orf114, C9orf116, C9orf117, C9orf129, C9orf131, C9orf135, C9orf147, C9orf152, C9orf156, C9orf169, C9orf171, C9orf172, C9orf173, C9orf24, C9orf3, C9orf37, C9orf38, C9orf40, C9orf43, C9orf50, C9orf57, C9orf62, C9orf66, C9orf69, C9orf78, C9orf84, C9orf89, C9orf9, C9orf96, CA9, CACFD1, CACNA1B, CAMSAP1, CBWD1, CCDC107, CCDC171, CCDC180, CCDC183, CCIN, CD72, CDK20, CDK5RAP2, CEL, CEP78, CERCAM, CNTLN, CNTNAP3B, CNTRL, COL15A1, COL27A1, COL5A1, COQ4, CRAT, CRB2, CTSL, DAB2IP, DAPK1, DBH, DDX31, DDX58, DEC1, DENND1A, DFNB31, DMRT2, DNAJA1, DNAJC25, DNM1, DOCK8, DOLPP1, DPM2, DPP7, ECM2, EHMT1, ENG, ENTPD8, EQTN, ERCC6L2, ERMP1, EXD3, EXOSC3, FAM102A, FAM120A, FAM120AOS, FAM154A, FAM166B, FAM189A2, FAM205A, FAM214B, FAM221B, FAM69B, FAM78A, FBP1, FBP2, FCN1, FCN2, FGD3, FIBCD1, FKBP15, FKTN, FNBP1, FOCAD, FOXE1, FPGS, FREM1, FRMD3, FRMPD1, FSD1L, FXN, GABBR2, GAPVD1, GBGT1, GLDC, GLE1, GLIS3, GLT6D1, GOLGA1, GPR107, GPR144, GPSM1, GRHPR, GRIN1, GRIN3A, HABP4, HAUS6, HDHD3, HEMGN, HMCN2, HRCT1, IARS, IER5L, IFNA1, IFNB1, IFNK, IKBKAP, IL33, INVS, IZUMO3, JAK2, KANK1, KCNT1, KCNV2, KDM4C, KIAA0368, KIAA1161, KIAA1432, KIAA2026, KIF24, LAMC3, LCN12, LCN15, LHX2, LMX1B, LPAR1, LRRC26, LRRC8A, LRSAM1, LURAP1L, MAMDC4, MAN1B1, MEGF9, MELK, MLLT3, MORN5, MPDZ, MURC, MUSK, NACC2, NAIF1, NANS, NCS1, NDOR1, NEK6, NINJ1, NIPSNAP3A, NIPSNAP3B, NOL6, NOTCH1, NOXA1, NPDC1, NPR2, NTNG2, NUP188, NUP214, OBP2A, OBP2B, OLFM1, OLFML2A, OR13C2, OR13C3, OR13C5, OR13C8, OR13C9, OR13D1, OR13F1, OR13J1, OR1B1, OR1L1, OR1L4, OR1L6, OR1Q1, OR2K2, OR2S2, ORM1, PALM2-AKAP2, PAPPA, PAX5, PCSK5, PDCD1LG2, PHF19, PHF2, PIGO, PIP5KL1, PNPLA7, POLR1E, POMT1, PPAPDC3, PPP1R26, PPP6C, PRDM12, PRPF4, PRRC2B, PRSS3, PRUNE2, PSMB7, PSMD5, PTCH1, PTGDS, PTGES, PTGES2, PTGR1, PTGS1, PTPLAD2, PTPN3, PTPRD, QRFP, RABEPK, RABL6, RAD23B, RALGDS, RANBP6, RAPGEF1, RC3H2, RECK, REXO4, RGS3, RLN1, RMI1, RNF183, RNF20, ROR2, RORB, RP11-145E5.5, RPL7A, RUSC2, SARDH, SEMA4D, SETX, SH2D3C, SH3GLB2, SHB, SHC3, SLC1A1, SLC24A2, SLC25A25, SLC2A6, SLC31A1, SLC34A3, SLC44A1, SLC46A2, SMARCA2, SMC2, SMC5, SNAPC4, SNX30, SOHLH1, SPAG8, SPATA31D1, SPATA31E1, SPINK4, SPTAN1, STRBP, STX17, SURF2, SURF6, SVEP1, SYK, TBC1D2, TEK, TESK1, TEX10, TJP2, TLE1, TLE4, TLN1, TMC1, TMEM2, TMEM210, TMEM246, TMEM261, TMEM38B, TMEM8C, TNC, TNFSF15, TOPORS, TOR1A, TOR2A, TPD52L3, TPM2, TRBV20OR9-2, TRPM3, TRPM6, TSTD2, TTC16, TTC39B, TTF1, TTLL11, TUSC1, UAP1L1, UBAC1, UBAP2, UBQLN1, UCK1, UGCG, USP20, VAV2, VLDLR, VPS13A, WDR31, WDR34, WDR38, WDR5, WNK2, ZBTB43, ZBTB5, ZCCHC6, ZDHHC12, ZDHHC21, ZER1, ZFAND5, ZFP37, ZNF462, ZNF618, ZNF782,

+ Genes associated with diseases 87

Genes at Omim

ABCA1, ABL1, ADAMTS13, ADAMTSL2, AK1, ALAD, ANKS6, AQP3, AQP7, ASPN, BAAT, C5, CACNA1B, CDK5RAP2, CEL, CEP78, COL27A1, COL5A1, COQ4, CRAT, CRB2, DBH, DDX58, DNM1, DOCK8, DPM2, EHMT1, ENG, ERCC6L2, EXOSC3, FBP1, FKTN, FOXE1, FREM1, FXN, GABBR2, GLDC, GLE1, GLIS3, GRHPR, GRIN1, IARS, IFNA1, IKBKAP, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MUSK, NANS, NOTCH1, NPR2, NUP214, PAX5, PIGO, POMT1, PRDM12, PRPF4, PTCH1, ROR2, RORB, RUSC2, SARDH, SETX, SLC1A1, SLC34A3, SMARCA2, SOHLH1, SPTAN1, TEK, TJP2, TMC1, TMEM38B, TNC, TOPORS, TPM2, TRPM6, VLDLR, 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)
AK1 Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
ALAD {Lead poisoning, susceptibility to}, 612740 (3)
Porphyria, acute hepatic, 612740 (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)
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)
DNM1 Epileptic encephalopathy, early infantile, 31, 616346 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DPM2 Congenital disorder of glycosylation, type Iu, 615042 (3)
EHMT1 Kleefstra syndrome 1, 610253 (3)
ENG Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
ERCC6L2 Bone marrow failure syndrome 2, 615715 (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)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GRIN1 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3)
IARS Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3)
IFNA1 Interferon, alpha, deficiency (1)
IKBKAP Dysautonomia, familial, 223900 (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)
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)
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)
PRDM12 Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3)
PRPF4 Retinitis pigmentosa 70, 615922 (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)
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)
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)
TMEM38B Osteogenesis imperfecta, type XIV, 615066 (3)
TNC Deafness, autosomal dominant 56, 615629 (3)
TOPORS Retinitis pigmentosa 31, 609923 (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)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
VLDLR Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (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, ALAD, ANKS6, AQP3, BAAT, C5, CACNA1B, CDK5RAP2, CEL, COL27A1, COL5A1, COQ4, CRB2, DBH, DDX58, DNM1, DOCK8, DPM2, EHMT1, ENG, ERCC6L2, EXOSC3, FBP1, FKTN, FOXE1, FREM1, FXN, GLDC, GLE1, GLIS3, GRHPR, GRIN1, IKBKAP, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MUSK, NOTCH1, NPR2, PAX5, PIGO, POMT1, PRDM12, PRPF4, PTCH1, ROR2, SETX, SLC1A1, SLC34A3, SMARCA2, SPTAN1, TEK, TJP2, TMC1, TMEM38B, TNC, TOPORS, TOR1A, TPM2, TRPM6, VLDLR, 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
ALAD Porphyria, acute hepatic
ANKS6 Nephronophthisis 16
AQP3 Blood group, GIL
BAAT Hypercholanemia, familial
C5 Eculizumab, poor response to
Complement component 5 deficiency
CACNA1B Dystonia 23
CDK5RAP2 Microcephaly, primary autosomal recessive, 3
CEL Maturity-onset diabetes of the young, type 8
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
DNM1 Epileptic encephalopathy, early infantile 31
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DPM2 Congenital disorder of glycosylation, type Iu
EHMT1 Kleefstra syndrome
ENG Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis syndrome
ERCC6L2 Bone marrow failure syndrome 2
EXOSC3 Pontocerebellar hypoplasia type 1B
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
GRHPR Hyperoxaluria, primary, type II
GRIN1 Mental retardation, autosomal dominant 8
IKBKAP Dysautonomia, familial
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
PAX5 Pre-B cell acute lymphoblastic leukemia
PIGO Hyperphosphatasia with mental retardation syndrome 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
PRDM12 Neuropathy, hereditary sensory and autonomic, type VIII
PRPF4 Retinitis pigmentosa 70
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
SLC1A1 Dicarboxylic aminoaciduria
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SMARCA2 Nicolaides-Baraitser syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5
TEK Venous malformations, multiple cutaneous and mucosal
TJP2 Hypercholanemia, familial
Cholestasis, progressive familial intrahepatic 4
TMC1 Deafness, autosomal recessive 7
TMEM38B Osteogenesis imperfecta, type XIV
TNC Deafness, autosomal dominant 56
TOPORS Retitinis pigmentosa 31
TOR1A Dystonia 1, torsion
TPM2 Nemaline myopathy 4
CAP myopathy
Arthrogryposis, distal, type 1A
Arthrogryposis, distal, type 2B
TRPM6 Hypomagnesemia 1, intestinal
VLDLR Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
VPS13A Choreoacanthocytosis
WDR34 Short -rib thoracic dysplasia 11 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 1895
Number of Genes: 374

Export to: CSV

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 73411510240357_annotated 9 rs2853579
dbSNP Clinvar 		107591272 1581.77 G T PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.33906 0.33910 0.22413 None None None None None None ABCA1|0.668333708|9.43%
View 73411510240357_annotated 9 rs2246841
dbSNP Clinvar 		107602666 1650.77 C T PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.15256 0.15260 0.14939 None None None None None None ABCA1|0.668333708|9.43%
View 73411510240357_annotated 9 rs376462722
dbSNP Clinvar 		107593217 613.77 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.00015 None None None None None None ABCA1|0.668333708|9.43%
View 73411510240357_annotated 9 rs2230805
dbSNP Clinvar 		107624029 652.77 C T PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.37240 0.37240 0.32224 None None None None None None ABCA1|0.668333708|9.43%
View 73411510240357_annotated 9 rs2066714
dbSNP Clinvar 		107586753 678.77 T C PASS 0/1 44 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 73411510240357_annotated 9 rs2066715
dbSNP Clinvar 		107588033 1178.77 C T PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.11322 0.11320 0.04721 1.00 0.00 None None None None None None ABCA1|0.668333708|9.43%
View 73411510240357_annotated 9 rs2230806
dbSNP Clinvar 		107620867 958.77 C T PASS 0/1 91 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 73411510240357_annotated 9 rs908832
dbSNP Clinvar 		139912484 4377.77 A G PASS 1/1 146 SYNONYMOUS_CODING LOW None 0.96386 0.96390 0.03809 None None None None None None ABCA2|0.074227496|56.47%
View 73411510240357_annotated 9 rs4880189
dbSNP Clinvar 		139923265 1493.77 A G PASS 1/1 44 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 73411510240357_annotated 9 rs7048567
dbSNP Clinvar 		139904037 4749.77 A G PASS 1/1 156 SYNONYMOUS_CODING LOW None 0.72005 0.72000 0.29152 None None None None None None ABCA2|0.074227496|56.47%
View 73411510240357_annotated 9 rs2271862
dbSNP Clinvar 		139906359 6888.77 G A PASS 1/1 215 SYNONYMOUS_CODING LOW None 0.68730 0.68730 0.32231 None None None None None None ABCA2|0.074227496|56.47%
View 73411510240357_annotated 9 rs908828
dbSNP Clinvar 		139913239 3674.77 T G PASS 1/1 123 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%

ABL1
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 73411510240357_annotated 9 rs1056171
dbSNP Clinvar 		133761001 2061.77 A G PASS 0/1 160 SYNONYMOUS_CODING LOW None 0.65415 0.65420 0.41512 None None None None None None ABL1|0.915754224|3.1%
View 73411510240357_annotated 9 rs143132804
dbSNP Clinvar 		133760593 1406.77 G A PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.00180 0.00180 0.00546 None None None None None None ABL1|0.915754224|3.1%

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 73411510240357_annotated 9 rs41314453
dbSNP Clinvar 		136307825 569.77 C T PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.00559 0.00559 0.01015 0.03 0.06 None None None None None None ADAMTS13|0.009367264|81.4%
View 73411510240357_annotated 9 rs34024143
dbSNP Clinvar 		136287582 863.77 C T PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.05272 0.05272 0.09988 0.06 0.00 None None None None None None ADAMTS13|0.009367264|81.4%
View 73411510240357_annotated 9 rs1055432
dbSNP Clinvar 		136324239 870.77 C A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.23063 0.23060 0.24731 None None None None None None ADAMTS13|0.009367264|81.4%
View 73411510240357_annotated 9 rs28571612
dbSNP Clinvar 		136290672 1567.77 G A PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.02596 0.02596 0.06020 None None None None None None ADAMTS13|0.009367264|81.4%
View 73411510240357_annotated 9 rs34934621
dbSNP Clinvar 		136319600 945.77 G A PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.01757 0.01757 0.03652 None None None None None None ADAMTS13|0.009367264|81.4%
View 73411510240357_annotated 9 rs28647808
dbSNP Clinvar 		136305530 3268.77 C G PASS 0/1 283 NON_SYNONYMOUS_CODING MODERATE None 0.03235 0.03235 0.06313 0.00 0.48 None None None None None None ADAMTS13|0.009367264|81.4%
View 73411510240357_annotated 9 rs2301612
dbSNP Clinvar 		136301982 1237.77 C G PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.27157 0.27160 0.30130 1.00 0.00 None None None None None None ADAMTS13|0.009367264|81.4%
View 73411510240357_annotated 9 rs34054981
dbSNP Clinvar 		136291361 3777.77 C T PASS 0/1 342 SYNONYMOUS_CODING LOW None 0.02776 0.02776 0.06213 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 73411510240357_annotated 9 rs7033684
dbSNP Clinvar 		18777368 4286.77 T C PASS 1/1 136 SYNONYMOUS_CODING LOW None 0.68930 0.68930 0.28568 2.02 0.02 0.48065 T None None None None ADAMTSL1|0.674544897|9.24%
View 73411510240357_annotated 9 rs41304755
dbSNP Clinvar 		18829952 1666.77 A G PASS 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.10943 0.10940 0.17681 0.25 0.17 None None None None None None ADAMTSL1|0.674544897|9.24%
View 73411510240357_annotated 9 rs13293151
dbSNP Clinvar 		18681821 1091.77 A G PASS 0/1 120 SYNONYMOUS_CODING LOW None 0.27716 0.27720 0.32608 6.08 0.07 0.71458 D None None None None ADAMTSL1|0.674544897|9.24%
View 73411510240357_annotated 9 rs35525189,rs796576662
dbSNP Clinvar 		18826261 2224.73 GT G PASS 1/1 104 None None None None None None None None None ADAMTSL1|0.674544897|9.24%
View 73411510240357_annotated 9 rs934472
dbSNP Clinvar 		18775810 5358.77 C A PASS 1/1 160 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%
View 73411510240357_annotated 9 rs1549986
dbSNP Clinvar 		18776840 2103.77 A C PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.97205 0.97200 0.06223 1.80 0.02 0.46793 T 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 73411510240357_annotated 9 rs2073874
dbSNP Clinvar 		136412170 7239.77 C T PASS 1/1 221 SYNONYMOUS_CODING LOW None 0.72404 0.72400 0.12464 None None None None None None ADAMTSL2|0.0506365|62.46%
View 73411510240357_annotated 9 rs2073875
dbSNP Clinvar 		136412236 9966.77 A T PASS 1/1 244 SYNONYMOUS_CODING LOW None 0.72464 0.72460 0.12448 None None None None None None ADAMTSL2|0.0506365|62.46%
View 73411510240357_annotated 9 rs2073876
dbSNP Clinvar 		136412255 8556.77 A C PASS 1/1 196 SYNONYMOUS_CODING LOW None 0.72464 0.72460 0.12440 None None None None None None ADAMTSL2|0.0506365|62.46%

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 73411510240357_annotated 9 rs353510
dbSNP Clinvar 		133996503 1263.77 T A PASS 0/1 92 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 73411510240357_annotated 9 rs913986
dbSNP Clinvar 		130630639 1460.77 A G PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.99820 0.99820 0.00185 4.11 0.02 0.38414 T None None None None AK1|0.26080806|30.67%

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 73411510240357_annotated 9 rs3748176
dbSNP Clinvar 		117124731 774.77 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.38419 0.38420 0.41504 0.01 0.03 None None None None None None AKNA|0.005369534|85.34%
View 73411510240357_annotated 9 rs3748177
dbSNP Clinvar 		117122202 1810.77 C T PASS 0/1 145 SYNONYMOUS_CODING LOW None 0.38998 0.39000 0.41865 None None None None None None AKNA|0.005369534|85.34%

ALAD
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 73411510240357_annotated 9 rs1800435
dbSNP Clinvar 		116153891 2957.77 C G PASS 0/1 205 NON_SYNONYMOUS_CODING MODERATE None 0.06350 0.06350 0.06020 1.00 0.00 None None None None None None ALAD|0.24202063|32.28%
View 73411510240357_annotated 9 rs41305619
dbSNP Clinvar 		116152886 1329.77 C T PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.00408 None None None None None None ALAD|0.24202063|32.28%

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 73411510240357_annotated 9 rs2073478
dbSNP Clinvar 		38396065 4300.77 G T PASS 1/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.39497 0.39500 0.49669 0.00 0.13 None None None None None None ALDH1B1|0.096225216|51.9%
View 73411510240357_annotated 9 rs2228094
dbSNP Clinvar 		38395940 5008.77 T C PASS 1/1 159 SYNONYMOUS_CODING LOW None 0.93670 0.93670 0.07919 None None None None None None ALDH1B1|0.096225216|51.9%
View 73411510240357_annotated 9 rs4878199
dbSNP Clinvar 		38396502 5886.77 G A PASS 1/1 166 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%

ANAPC2
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 73411510240357_annotated 9 rs11549105
dbSNP Clinvar 		140077639 6136.77 G A PASS 1/1 193 SYNONYMOUS_CODING LOW None 0.10204 0.10200 0.18807 None None None None None None ANAPC2|0.117211115|47.91%
View 73411510240357_annotated 9 rs11549106
dbSNP Clinvar 		140079522 1795.77 G A PASS 0/1 113 SYNONYMOUS_CODING LOW None 0.18510 0.18510 0.21032 None None None None None None ANAPC2|0.117211115|47.91%

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 73411510240357_annotated 9 rs2297866
dbSNP Clinvar 		129854199 643.77 G A PASS 0/1 74 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 73411510240357_annotated 9 rs748551448
dbSNP Clinvar 		38575550 748.77 A G PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.22 0.16 None None None None None None ANKRD18A|0.001240448|94.24%
View 73411510240357_annotated 9 rs1832313
dbSNP Clinvar 		38615698 253.77 C T PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.42173 0.42170 0.41984 1.00 0.00 4.53 0.00 0.06282 T 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 73411510240357_annotated 9 rs41304751
dbSNP Clinvar 		33548175 2424.77 T C PASS 0/1 204 SYNONYMOUS_CODING LOW None 0.08666 0.08666 None None None None None None ANKRD18B|0.001295646|93.93%
View 73411510240357_annotated 9 rs7032174
dbSNP Clinvar 		33568687 473.77 T A PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.14317 0.14320 None None None None None None ANKRD18B|0.001295646|93.93%
View 73411510240357_annotated 9 rs3843933
dbSNP Clinvar 		33524684 563.77 G A PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.75320 0.75320 1.00 0.92 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 73411510240357_annotated 9 rs6415847
dbSNP Clinvar 		101533220 2468.77 C T PASS 1/1 73 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 73411510240357_annotated 9 rs76903503
dbSNP Clinvar 		101558444 336.77 G A PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.12380 0.12380 None None None None None None ANKS6|0.10473239|50.29%

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 73411510240357_annotated 9 rs591810
dbSNP Clinvar 		33447424 812.77 C G PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.74121 0.74120 0.25759 None None None None None None AQP3|0.497451011|15.96%
View 73411510240357_annotated 9 rs2228332
dbSNP Clinvar 		33442952 832.77 G A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.65875 0.65870 0.35999 1.72 0.01 0.35474 T 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 73411510240357_annotated 9 rs77962308
dbSNP Clinvar 		33386510 403.77 C T PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.01 None None None None None None AQP7|0.012677613|78.76%
View 73411510240357_annotated 9 rs79172651
dbSNP Clinvar 		33386167 241.77 G C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.00020 1.00 0.00 None None None None None None AQP7|0.012677613|78.76%
View 73411510240357_annotated 9 rs74589499
dbSNP Clinvar 		33386430 32.77 C T SNP_QC 0/1 35 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View 73411510240357_annotated 9 rs74668961
dbSNP Clinvar 		33386465 169.77 A G PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.41 None None None None None None AQP7|0.012677613|78.76%
View 73411510240357_annotated 9 rs78695486
dbSNP Clinvar 		33386469 163.77 C T PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None AQP7|0.012677613|78.76%
View 73411510240357_annotated 9 rs72707424
dbSNP Clinvar 		33386511 174.77 A G PASS 0/1 70 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View 73411510240357_annotated 9 rs2381003
dbSNP Clinvar 		33395108 207.77 G A SNP_QC 0/1 126 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%

ARHGEF39
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 73411510240357_annotated 9 rs45567235
dbSNP Clinvar 		35665153 204.77 C A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.06849 0.06849 0.09496 0.16 0.00 None None None None None None ARHGEF39|0.293829153|28.14%
View 73411510240357_annotated 9 rs2297879
dbSNP Clinvar 		35662251 1807.77 T C PASS 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.30571 0.30570 0.25065 0.33 0.00 6.50 None None None None None None ARHGEF39|0.293829153|28.14%

ARRDC1
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 73411510240357_annotated 9 rs62622789
dbSNP Clinvar 		140507480 2519.77 C T PASS 0/1 174 None None None 0.05591 0.05591 0.05659 0.02 0.91 None None None None None None ARRDC1|0.043457377|64.67%

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 73411510240357_annotated 9 rs2241247
dbSNP Clinvar 		132402908 2796.77 C G PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.93490 0.93490 0.04060 None None None None None None ASB6|0.071590826|57.08%
View 73411510240357_annotated 9 rs3739851
dbSNP Clinvar 		132400480 9559.77 G A PASS 1/1 269 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 73411510240357_annotated 9 rs4744132
dbSNP Clinvar 		95219597 3147.77 G A PASS 1/1 97 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%

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 73411510240357_annotated 9 rs7848630
dbSNP Clinvar 		120053776 2345.77 T C PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.96466 0.96470 0.03360 None None None None None None ASTN2|0.952118309|2.19%
View 73411510240357_annotated 9 rs7018569
dbSNP Clinvar 		119199820 816.77 C G PASS 1/1 26 None None None 0.92213 0.92210 0.58 0.00 None None None None None None ASTN2|0.952118309|2.19%
View 73411510240357_annotated 9 rs7863560
dbSNP Clinvar 		119495697 1322.77 T C PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.99241 0.99240 0.00484 None None None None None None ASTN2|0.952118309|2.19%
View 73411510240357_annotated 9 rs3761845
dbSNP Clinvar 		119770480 4570.77 C T PASS 1/1 141 SYNONYMOUS_CODING LOW None 0.48982 0.48980 0.43357 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 73411510240357_annotated 9 rs1572983
dbSNP Clinvar 		104133628 2047.77 C T PASS 1/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.56290 0.56290 0.36860 0.44 0.02 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 73411510240357_annotated 9 rs1071545
dbSNP Clinvar 		33264540 251.78 C G PASS 1/1 8 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%

BARX1
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 73411510240357_annotated 9 rs11793856
dbSNP Clinvar 		96714491 2949.77 C G PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.20387 0.20390 0.25150 None None None None None None BARX1|0.563718474|13.21%

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 73411510240357_annotated 9 rs467387
dbSNP Clinvar 		136907005 3925.77 G A PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.33546 0.33550 0.21194 None None None None None None BRD3|0.108368545|49.49%
View 73411510240357_annotated 9 rs464826
dbSNP Clinvar 		136913355 3794.77 T C PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.72504 0.72500 0.29230 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 73411510240357_annotated 9 rs17476783
dbSNP Clinvar 		121971069 590.77 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.00779 0.00779 0.01968 0.02 0.00 None None None None None None BRINP1|0.722842706|7.9%
View 73411510240357_annotated 9 rs2274157
dbSNP Clinvar 		122001000 573.77 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.44209 0.44210 0.35130 None None None None None None BRINP1|0.722842706|7.9%

BSPRY
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 73411510240357_annotated 9 rs752757
dbSNP Clinvar 		116122954 698.77 A G PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.36442 0.36440 0.29487 None None None None None None BSPRY|0.077695402|55.74%
View 73411510240357_annotated 9 rs3088235
dbSNP Clinvar 		116132334 1134.77 C T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.12580 0.12580 0.14343 0.07 0.29 None None None None None None BSPRY|0.077695402|55.74%

C5
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 73411510240357_annotated 9 rs17611
dbSNP Clinvar 		123769200 920.77 C T PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.40475 0.40480 0.32485 0.20 0.12 None None None None None None C5|0.070590656|57.35%
View 73411510240357_annotated 9 rs25681
dbSNP Clinvar 		123780005 2626.77 G A PASS 0/1 200 SYNONYMOUS_CODING LOW None 0.40575 0.40580 0.32454 None None None None None None C5|0.070590656|57.35%

C8G
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 73411510240357_annotated 9 rs7850844
dbSNP Clinvar 		139840543 5801.77 A G PASS 1/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.96725 0.96730 0.04834 1.00 0.00 None None None None None None C8G|0.005774139|84.88%
View 73411510240357_annotated 9 rs2071006
dbSNP Clinvar 		139839904 2574.77 T G PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.56769 0.56770 0.45217 None None None None None None C8G|0.005774139|84.88%

C9orf114
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs2280843
dbSNP Clinvar 		131585069 1565.77 A G PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.60383 0.60380 0.37801 1.00 0.00 None None None None None None C9orf114|0.115068599|48.31%

C9orf116
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs7037251
dbSNP Clinvar 		138391299 1647.77 T A PASS 0/1 125 None None None 0.57927 0.57930 0.72 0.00 None None None None None None C9orf116|0.007964334|82.65%

C9orf117
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs522328
dbSNP Clinvar 		130475011 13812.77 T C PASS 1/1 447 SYNONYMOUS_CODING LOW None 0.63738 0.63740 0.33645 None None None None None None PTRH1|0.053972613|61.48%,C9orf117|0.003242017|88.26%
View 73411510240357_annotated 9 rs497632
dbSNP Clinvar 		130475442 1431.77 A C PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.53674 0.53670 0.41920 0.18 0.08 None None None None None None PTRH1|0.053972613|61.48%,C9orf117|0.003242017|88.26%

C9orf129
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs3122944
dbSNP Clinvar 		96097747 5529.77 C T SNP_QC 1/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.63059 0.63060 0.01 0.02 None None None None None None C9orf129|0.002952224|88.72%

C9orf131
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs615474
dbSNP Clinvar 		35043291 4924.77 G T PASS 1/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.65395 0.65400 0.28779 1.00 0.00 None None None None None None C9orf131|0.007511976|83.04%

C9orf135
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs10780682
dbSNP Clinvar 		72472831 2033.77 C T PASS 0/1 170 SYNONYMOUS_CODING LOW None 0.27057 0.27060 0.26872 None None None None None None C9orf135|0.017718447|75.47%

C9orf147
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs7031191
dbSNP Clinvar 		115249433 1458.77 T C PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.95128 0.95130 None None None None None None C9orf147|0.002191389|90.44%,KIAA1958|0.4868177|16.47%

C9orf152
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs10120707
dbSNP Clinvar 		112963504 12302.77 A G PASS 1/1 381 SYNONYMOUS_CODING LOW None 0.96905 0.96900 0.07566 None None None None None None C9orf152|0.005537676|85.17%

C9orf156
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs3183928
dbSNP Clinvar 		100684719 1959.77 A C PASS 0/1 148 SYNONYMOUS_CODING LOW None 0.26518 0.26520 0.30684 None None None None None None C9orf156|0.045575109|64.03%
View 73411510240357_annotated 9 rs3183927
dbSNP Clinvar 		100684757 1481.77 A G PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE None 0.26498 0.26500 0.30403 1.00 0.00 None None None None None None C9orf156|0.045575109|64.03%

C9orf169
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs6606566
dbSNP Clinvar 		140120396 904.77 C T PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.84185 0.84190 0.18342 1.00 0.00 None None None None None None CYSRT1|0.004819797|86.08%

C9orf171
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs562350
dbSNP Clinvar 		135374898 2249.77 T C PASS 0/1 168 SYNONYMOUS_CODING LOW None 0.67832 0.67830 0.37537 None None None None None None C9orf171|0.095048175|52.09%
View 73411510240357_annotated 9 rs149842561
dbSNP Clinvar 		135374123 777.77 C T PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00062 None None None None None None C9orf171|0.095048175|52.09%

C9orf172
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs10870132
dbSNP Clinvar 		139739643 176.84 T C PASS 1/1 6 SYNONYMOUS_CODING LOW None 0.78914 0.78910 None None None None None None C9orf172|0.015366861|76.9%

C9orf173
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs61759822
dbSNP Clinvar 		140147273 888.77 C T PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.14277 0.14280 0.08734 0.11 0.93 None None None None None None C9orf173|0.002917649|88.78%

C9orf24
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 9 rs11790577
dbSNP Clinvar 		34397545 3212.77 A G PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.40435 0.40440 0.45125 None None None None None None C9orf24|0.044460803|64.35%
View 73411510240357_annotated 9 rs3737242
dbSNP Clinvar 		34379692 4347.77 C T PASS 0/1 302 SYNONYMOUS_CODING LOW None 0.14157 0.14160 0.15800 3.53 0.01 0.30236 T None None None None C9orf24|0.044460803|64.35%