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+ Genes 375

Genes:
ABCA1, ABCA2, ABL1, ACTL7A, ADAMTS13, ADAMTSL1, ADAMTSL2, AGPAT2, AGTPBP1, AIF1L, AK1, AKNA, ALDH1A1, ALDH1B1, ANAPC2, ANGPTL2, ANKRD18A, ANKRD18B, ANKS6, AQP3, AQP7, ARID3C, ARRDC1, ASB6, ASPN, ASS1, ASTN2, BAAT, BAG1, BNC2, BRD3, BRINP1, C5, C8G, C9orf114, C9orf116, C9orf117, C9orf129, C9orf131, C9orf135, C9orf141, C9orf147, C9orf152, C9orf156, C9orf169, C9orf171, C9orf172, C9orf173, C9orf24, C9orf3, C9orf38, C9orf50, C9orf57, C9orf62, C9orf66, C9orf72, C9orf78, C9orf84, C9orf96, CA9, CACFD1, CACNA1B, CAMSAP1, CBWD1, CCDC107, CCDC171, CCDC180, CCDC183, CCIN, CDC37L1, CDK20, CDK5RAP2, CDK9, CEL, CEP78, CERCAM, CLTA, CNTLN, CNTNAP3B, CNTRL, COL15A1, COL27A1, COL5A1, COQ4, CRAT, CRB2, CTSL, DAPK1, DBH, DDX31, DDX58, DENND1A, DENND4C, DFNB31, DMRT1, DMRT2, DMRTA1, DNAJA1, DNM1, DOCK8, DOLPP1, DPM2, DPP7, ECM2, EGFL7, ENG, ENTPD2, ENTPD8, EPB41L4B, ERCC6L2, EXD3, EXOSC3, FAM102A, FAM120A, FAM120AOS, FAM154A, FAM189A2, FAM205A, FAM214B, FAM69B, FAM78A, FANCC, FBP1, FBP2, FBXO10, FBXW5, FCN1, FCN2, FGD3, FIBCD1, FKBP15, FKTN, FLJ00273, FNBP1, FOCAD, FOXE1, FREM1, FRMD3, FRMPD1, FRRS1L, FXN, GABBR2, GALT, GAPVD1, GARNL3, GCNT1, GLDC, GLIS3, GLT6D1, GNA14, GOLGA1, GPR107, GPR144, GPSM1, GRHPR, GRIN3A, GTF3C4, GTF3C5, HAUS6, HDHD3, HMCN2, IFNA5, IFNK, IFT74, IKBKAP, IL33, INPP5E, INSL4, INVS, IZUMO3, JAK2, KANK1, KCNT1, KCNV2, KDM4C, KIAA0020, KIAA0368, KIAA1161, KIAA1432, KIAA2026, KIF12, KIF24, KIF27, LAMC3, LCN12, LCN15, LHX2, LMX1B, LRRC19, LRRC26, LRRC8A, LRSAM1, LURAP1L, MAMDC2, MAMDC4, MAN1B1, MEGF9, MELK, MOB3B, MPDZ, MTAP, MURC, MUSK, MVB12B, NACC2, NAIF1, NANS, NDUFA8, NEK6, NELFB, NFIL3, NFX1, NINJ1, NIPSNAP3A, NMRK1, NOL8, NOTCH1, NOXA1, NPDC1, NR4A3, NR5A1, NTNG2, NUP188, NUP214, NUTM2F, OBP2A, ODF2, OLFM1, OLFML2A, OR13D1, OR13F1, OR13J1, OR1B1, OR1J1, OR1J2, OR1L1, OR1L4, OR1L6, OR1N1, OR1N2, OR1Q1, OR2K2, OR2S2, ORM1, PALM2-AKAP2, PAPPA, PAX5, PCSK5, PDCD1LG2, PHF19, PHF2, PHYHD1, PIGO, PIP5KL1, PNPLA7, POLR1E, POMT1, PPAPDC3, PPP1R26, PRDM12, PRRC2B, PRSS3, PRUNE2, PSAT1, PSMD5, PTCH1, PTGDS, PTGES2, PTGR1, PTGS1, PTPN3, PTPRD, QSOX2, RABEPK, RABL6, RAD23B, RALGDS, RASEF, RC3H2, RECK, REXO4, RGS3, RLN1, RMI1, RNF224, ROR2, RP11-145E5.5, RP11-295D22.1, RUSC2, SARDH, SCAI, SDCCAG3, SEC16A, SETX, SH2D3C, SH3GLB2, SHB, SHC3, SIGMAR1, SLC1A1, SLC24A2, SLC25A25, SLC27A4, SLC28A3, SLC2A6, SLC34A3, SLC46A2, SMARCA2, SMC5, SNAPC4, SNX30, SOHLH1, SPATA31D1, SPATA31E1, SPTAN1, STRBP, SURF2, SURF6, SVEP1, TAF1L, TBC1D2, TDRD7, TEK, TESK1, TEX10, TJP2, TLE1, TLE4, TMC1, TMEM8C, TNC, TNFSF15, TNFSF8, TOPORS, TOR1A, TOR2A, TPD52L3, TRAF1, TRBV20OR9-2, TRPM3, TRPM6, TSC1, TSTD2, TTC16, TTC39B, TTF1, TTLL11, TUSC1, UAP1L1, UBAC1, UBAP2, UCK1, UHRF2, UNC13B, USP20, VAV2, VLDLR, VPS13A, WDR34, WDR38, WDR5, WNK2, ZBTB43, ZBTB5, ZCCHC6, ZDHHC12, ZDHHC21, ZER1, ZFAND5, ZFP37, ZNF189, ZNF462, ZNF618, ZNF658, ZNF79,

+ Genes associated with diseases 92

Genes at Omim

ABCA1, ABL1, ADAMTS13, ADAMTSL2, AGPAT2, AGTPBP1, AK1, ANKS6, AQP3, AQP7, ASPN, ASS1, BAAT, C5, C9orf72, CACNA1B, CDK5RAP2, CEL, CEP78, COL27A1, COL5A1, COQ4, CRAT, CRB2, DBH, DDX58, DNM1, DOCK8, DPM2, ENG, ERCC6L2, EXOSC3, FANCC, FBP1, FKTN, FOXE1, FREM1, FRRS1L, FXN, GABBR2, GALT, GLDC, GLIS3, GRHPR, IFT74, IKBKAP, INPP5E, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MTAP, MUSK, NANS, NOTCH1, NR5A1, NUP214, PAX5, PIGO, POMT1, PRDM12, PSAT1, PTCH1, ROR2, RUSC2, SARDH, SETX, SIGMAR1, SLC1A1, SLC27A4, SLC34A3, SMARCA2, SOHLH1, SPTAN1, TDRD7, TEK, TJP2, TMC1, TNC, TOPORS, TRPM6, TSC1, 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)
AGPAT2 Lipodystrophy, congenital generalized, type 1, 608594 (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)
ASS1 Citrullinemia, 215700 (3)
BAAT Hypercholanemia, familial, 607748 (3)
C5 C5 deficiency, 609536 (3)
[Eculizumab, poor response to], 615749 (3)
C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (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)
ENG Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
FANCC Fanconi anemia, complementation group C, 227645 (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)
FRRS1L Epileptic encephalopathy, early infantile, 37, 616981 (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)
GALT Galactosemia, 230400 (3)
GLDC Glycine encephalopathy, 605899 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
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)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (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)
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)
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)
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)
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)
SLC27A4 Ichthyosis prematurity syndrome, 608649 (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)
TOPORS Retinitis pigmentosa 31, 609923 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
TSC1 Focal cortical dysplasia, type II, somatic, 607341 (3)
Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (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, AGPAT2, AK1, ANKS6, AQP3, ASS1, BAAT, C5, CACNA1B, CDK5RAP2, CEL, COL27A1, COL5A1, COQ4, CRB2, DBH, DDX58, DNM1, DOCK8, DPM2, ENG, ERCC6L2, EXOSC3, FANCC, FBP1, FKTN, FOXE1, FREM1, FXN, GALT, GLDC, GLIS3, GRHPR, IKBKAP, INPP5E, INVS, JAK2, KANK1, KCNT1, KCNV2, LAMC3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MTAP, MUSK, NOTCH1, NR5A1, PAX5, PIGO, POMT1, PRDM12, PSAT1, PTCH1, ROR2, SETX, SIGMAR1, SLC1A1, SLC27A4, SLC34A3, SMARCA2, SPTAN1, TDRD7, TEK, TJP2, TMC1, TNC, TOPORS, TOR1A, TRPM6, TSC1, VLDLR, VPS13A, WDR34,
ABCA1 ABCA1 deficiency
Tangier disease
HDL deficiency, type 2
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADAMTSL2 Geleophysic dysplasia 1
AGPAT2 Lipodystrophy, congenital generalized, type 1
AK1 Adenylate kinase deficiency, hemolytic anemia due to
ANKS6 Nephronophthisis 16
AQP3 Blood group, GIL
ASS1 Citrullinemia
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
ENG Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis syndrome
ERCC6L2 Bone marrow failure syndrome 2
EXOSC3 Pontocerebellar hypoplasia type 1B
FANCC Fanconi anemia, complementation group C
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
GALT Galactosemia
GLDC Glycine encephalopathy
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
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
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MUSK Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
NOTCH1 Aortic valve disease
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
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
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
SLC27A4 Ichthyosis prematurity syndrome
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
TOPORS Retitinis pigmentosa 31
TOR1A Dystonia 1, torsion
TRPM6 Hypomagnesemia 1, intestinal
TSC1 Tuberous sclerosis
Lymphangioleiomyomatosis
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: 3500
Number of Genes: 375

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 myexome-1 9 rs2230808
dbSNP Clinvar 		107562804 2897.77 T C PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.53834 0.53830 0.41496 0.61 0.09 None None None None None None ABCA1|0.668333708|9.43%
View myexome-1 9 rs35871586
dbSNP Clinvar 		107581949 166.77 A C PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.00419 0.00419 0.00784 None None None None None None ABCA1|0.668333708|9.43%
View myexome-1 9 rs2230805
dbSNP Clinvar 		107624029 295.77 C T PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.37240 0.37240 0.32224 None None None None None None ABCA1|0.668333708|9.43%
View myexome-1 9 rs2230806
dbSNP Clinvar 		107620867 876.77 C T PASS 0/1 67 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%
View myexome-1 9 rs2246841
dbSNP Clinvar 		107602666 1212.77 C T PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.15256 0.15260 0.14939 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 myexome-1 9 rs7048567
dbSNP Clinvar 		139904037 3665.77 A G PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.72005 0.72000 0.29152 None None None None None None ABCA2|0.074227496|56.47%
View myexome-1 9 rs908828
dbSNP Clinvar 		139913239 2673.77 T G PASS 1/1 89 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 myexome-1 9 rs4880189
dbSNP Clinvar 		139923265 513.77 A G PASS 0/1 34 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 myexome-1 9 rs908832
dbSNP Clinvar 		139912484 3334.77 A G PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.96386 0.96390 0.03809 None None None None None None ABCA2|0.074227496|56.47%
View myexome-1 9 rs2271862
dbSNP Clinvar 		139906359 1887.77 G A PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.68730 0.68730 0.32231 None None None None None None ABCA2|0.074227496|56.47%

ABL1
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 myexome-1 9 rs1056171
dbSNP Clinvar 		133761001 1692.77 A G PASS 0/1 141 SYNONYMOUS_CODING LOW None 0.65415 0.65420 0.41512 None None None None None None ABL1|0.915754224|3.1%

ACTL7A
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 myexome-1 9 rs56031956
dbSNP Clinvar 		111625629 2769.77 C G PASS 0/1 245 NON_SYNONYMOUS_CODING MODERATE None 0.01278 0.01278 0.02576 0.10 1.00 None None None None None None ACTL7A|0.047459247|63.47%

ADAMTS13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 9 rs3124768
dbSNP Clinvar 		136304497 1375.77 A G PASS 0/1 112 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51597 0.51600 0.41542 None None None None None None ADAMTS13|0.009367264|81.4%
View myexome-1 9 rs3118667
dbSNP Clinvar 		136291063 2151.77 C T PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.58187 0.58190 0.48355 None None None None None None ADAMTS13|0.009367264|81.4%
View myexome-1 9 rs1055432
dbSNP Clinvar 		136324239 985.77 C A PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.23063 0.23060 0.24731 None None None None None None ADAMTS13|0.009367264|81.4%
View myexome-1 9 rs2301612
dbSNP Clinvar 		136301982 552.77 C G PASS 0/1 60 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 myexome-1 9 rs3124767
dbSNP Clinvar 		136308542 253.77 C T PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.49681 0.49680 0.38725 None None None None None None ADAMTS13|0.009367264|81.4%

ADAMTSL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 9 rs2277160
dbSNP Clinvar 		18504916 548.77 T A PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.57089 0.57090 0.40643 None None None None None None ADAMTSL1|0.674544897|9.24%
View myexome-1 9 rs13293151
dbSNP Clinvar 		18681821 1600.77 A G PASS 1/1 54 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 myexome-1 9 rs934472
dbSNP Clinvar 		18775810 3155.77 C A PASS 1/1 100 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 myexome-1 9 rs1549986
dbSNP Clinvar 		18776840 2218.77 A C PASS 1/1 67 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%
View myexome-1 9 rs7033684
dbSNP Clinvar 		18777368 2819.77 T C PASS 1/1 88 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 myexome-1 9 rs35525189,rs796576662
dbSNP Clinvar 		18826261 1480.77 GT G PASS 1/1 56 None None None None None None None None None ADAMTSL1|0.674544897|9.24%

ADAMTSL2
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 myexome-1 9 rs2073874
dbSNP Clinvar 		136412170 4694.77 C T PASS 1/1 149 SYNONYMOUS_CODING LOW None 0.72404 0.72400 0.12464 None None None None None None ADAMTSL2|0.0506365|62.46%
View myexome-1 9 rs2073876
dbSNP Clinvar 		136412255 3066.77 A C PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.72464 0.72460 0.12440 None None None None None None ADAMTSL2|0.0506365|62.46%
View myexome-1 9 rs2073875
dbSNP Clinvar 		136412236 4121.77 A T PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.72464 0.72460 0.12448 None None None None None None ADAMTSL2|0.0506365|62.46%

AGPAT2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 myexome-1 9 rs768646064
dbSNP Clinvar 		139581758 933.77 C CCAG PASS 0/1 62 CODON_INSERTION MODERATE None 0.04892 0.04892 None None None None None None AGPAT2|0.018792809|74.8%

AGTPBP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 myexome-1 9 rs10114347
dbSNP Clinvar 		88356743 136.77 A G PASS 0/1 11 SYNONYMOUS_CODING LOW None 0.43031 0.43030 None None None None None None AGTPBP1|0.262515075|30.52%
View myexome-1 9 rs144890878
dbSNP Clinvar 		88248239 1229.77 T C PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.00619 0.00619 0.00363 None None None None None None AGTPBP1|0.262515075|30.52%

AIF1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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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 myexome-1 9 rs353510
dbSNP Clinvar 		133996503 1958.77 T A PASS 1/1 61 None None None 0.64537 0.64540 None None None None None None AIF1L|0.265763061|30.2%
View myexome-1 9 rs2315075
dbSNP Clinvar 		133981629 186.77 T C PASS 0/1 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%

AK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 9 rs913986
dbSNP Clinvar 		130630639 861.77 A G PASS 1/1 30 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
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 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 9 rs2250242
dbSNP Clinvar 		117103973 129.77 A G PASS 0/1 17 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 myexome-1 9 rs41306498
dbSNP Clinvar 		117139280 1141.77 T C PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.05312 0.05312 0.06489 None None None None None None AKNA|0.005369534|85.34%
View myexome-1 9 rs3748176
dbSNP Clinvar 		117124731 490.77 G A PASS 0/1 41 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 myexome-1 9 rs3748177
dbSNP Clinvar 		117122202 1466.77 C T PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.38998 0.39000 0.41865 None None None None None None AKNA|0.005369534|85.34%

ALDH1A1
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 myexome-1 9 rs13959
dbSNP Clinvar 		75545882 1094.77 G A PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.40935 0.40930 0.41489 None None None None None None ALDH1A1|0.218646851|34.51%

ALDH1B1
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 myexome-1 9 rs2228094
dbSNP Clinvar 		38395940 3883.77 T C PASS 1/1 125 SYNONYMOUS_CODING LOW None 0.93670 0.93670 0.07919 None None None None None None ALDH1B1|0.096225216|51.9%
View myexome-1 9 rs2073478
dbSNP Clinvar 		38396065 3249.77 G T PASS 1/1 98 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 myexome-1 9 rs4878199
dbSNP Clinvar 		38396502 4204.77 G A PASS 1/1 117 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 9 rs11549105
dbSNP Clinvar 		140077639 1203.77 G A PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.10204 0.10200 0.18807 None None None None None None ANAPC2|0.117211115|47.91%

ANGPTL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 9 rs2297866
dbSNP Clinvar 		129854199 1564.77 G A PASS 1/1 52 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 9 rs12341435
dbSNP Clinvar 		38575602 403.77 T G PASS 0/1 48 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 myexome-1 9 rs1832313
dbSNP Clinvar 		38615698 754.77 C T PASS 1/1 26 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%
View myexome-1 9 rs2799163
dbSNP Clinvar 		38588602 209.77 T C PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.39217 0.39220 0.19 0.93 None None None None None None ANKRD18A|0.001240448|94.24%

ANKRD18B
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 myexome-1 9 rs3843933
dbSNP Clinvar 		33524684 381.77 G A PASS 1/1 12 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
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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 myexome-1 9 rs6415847
dbSNP Clinvar 		101533220 1643.77 C T PASS 1/1 50 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%

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 myexome-1 9 rs2228332
dbSNP Clinvar 		33442952 568.77 G A PASS 0/1 48 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%
View myexome-1 9 rs591810
dbSNP Clinvar 		33447424 478.77 C G PASS 0/1 55 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 myexome-1 9 rs72707424
dbSNP Clinvar 		33386511 534.77 A G PASS 0/1 52 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View myexome-1 9 rs642636
dbSNP Clinvar 		33395196 1623.77 A G PASS 1/1 49 None None None 0.99082 0.99080 0.00692 None None None None None None AQP7|0.012677613|78.76%
View myexome-1 9 rs77962308
dbSNP Clinvar 		33386510 534.77 C T PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.01 None None None None None None AQP7|0.012677613|78.76%
View myexome-1 9 rs79202054
dbSNP Clinvar 		33386526 358.77 G A PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.00020 0.00020 4.93 0.01 0.13281 T None None None None AQP7|0.012677613|78.76%
View myexome-1 9 rs76209395
dbSNP Clinvar 		33386144 43.77 G A MG_SNP_Filter 0/1 36 SYNONYMOUS_CODING LOW None 4.77 0.04 0.59886 D None None None None AQP7|0.012677613|78.76%
View myexome-1 9 rs74589499
dbSNP Clinvar 		33386430 68.77 C T PASS 0/1 22 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View myexome-1 9 rs2381003
dbSNP Clinvar 		33395108 217.77 G A PASS 0/1 77 SYNONYMOUS_CODING LOW None None None None None None None AQP7|0.012677613|78.76%
View myexome-1 9 rs79172651
dbSNP Clinvar 		33386167 229.77 G C PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.00020 1.00 0.00 None None None None None None AQP7|0.012677613|78.76%
View myexome-1 9 rs78695486
dbSNP Clinvar 		33386469 317.77 C T PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None AQP7|0.012677613|78.76%
View myexome-1 9 rs76608797
dbSNP Clinvar 		33386146 43.77 C A MG_SNP_Filter 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.08 0.01 None None None None None None AQP7|0.012677613|78.76%
View myexome-1 9 rs74668961
dbSNP Clinvar 		33386465 253.77 A G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.41 None None None None None None AQP7|0.012677613|78.76%
View myexome-1 9 rs62542746
dbSNP Clinvar 		33385863 33.77 G T PASS 0/1 6 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05 0.01 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 myexome-1 9 rs3808869
dbSNP Clinvar 		34622389 1244.77 A C PASS 1/1 36 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%

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 myexome-1 9 rs62622789
dbSNP Clinvar 		140507480 4325.77 C T PASS 1/1 123 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 myexome-1 9 rs2241247
dbSNP Clinvar 		132402908 1640.77 C G PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.93490 0.93490 0.04060 None None None None None None ASB6|0.071590826|57.08%
View myexome-1 9 rs3739851
dbSNP Clinvar 		132400480 1880.77 G A PASS 0/1 139 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 myexome-1 9 rs4744132
dbSNP Clinvar 		95219597 1652.77 G A PASS 1/1 54 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 myexome-1 9 rs878929025,rs397838876,rs557103556
dbSNP Clinvar 		95237024 1541.77 CTCA C,... PASS 1/2 44 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ASS1
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 myexome-1 9 rs1057484
dbSNP Clinvar 		133364757 430.77 T C PASS 0/1 35 SYNONYMOUS_CODING LOW None 0.07668 0.07668 0.10288 None None None None None None ASS1|0.463790404|17.47%

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 myexome-1 9 rs7018569
dbSNP Clinvar 		119199820 416.77 C G PASS 1/1 14 None None None 0.92213 0.92210 0.58 0.00 None None None None None None ASTN2|0.952118309|2.19%
View myexome-1 9 rs7848630
dbSNP Clinvar 		120053776 1575.77 T C PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.96466 0.96470 0.03360 None None None None None None ASTN2|0.952118309|2.19%
View myexome-1 9 rs3761845
dbSNP Clinvar 		119770480 1137.77 C T PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.48982 0.48980 0.43357 None None None None None None ASTN2|0.952118309|2.19%
View myexome-1 9 rs7863560
dbSNP Clinvar 		119495697 673.77 T C PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.99241 0.99240 0.00484 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 myexome-1 9 rs1572983
dbSNP Clinvar 		104133628 958.77 C T PASS 1/1 28 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 myexome-1 9 rs1071545
dbSNP Clinvar 		33264540 95.28 C G PASS 1/1 3 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%

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 myexome-1 9 rs147575972
dbSNP Clinvar 		16436033 1810.77 C T PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.00138 0.09 0.54 3.40 0.01 0.32899 T 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 myexome-1 9 rs464826
dbSNP Clinvar 		136913355 2891.77 T C PASS 1/1 87 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 myexome-1 9 rs1043379
dbSNP Clinvar 		121930307 990.77 G A PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.02236 0.02236 0.04975 None None None None None None BRINP1|0.722842706|7.9%

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 myexome-1 9 rs25681
dbSNP Clinvar 		123780005 1491.77 G A PASS 0/1 145 SYNONYMOUS_CODING LOW None 0.40575 0.40580 0.32454 None None None None None None C5|0.070590656|57.35%
View myexome-1 9 rs17611
dbSNP Clinvar 		123769200 601.77 C T PASS 0/1 59 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%

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 myexome-1 9 rs7850844
dbSNP Clinvar 		139840543 4220.77 A G PASS 1/1 138 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 myexome-1 9 rs2071006
dbSNP Clinvar 		139839904 1179.77 T G PASS 1/1 40 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
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 9 rs2280843
dbSNP Clinvar 		131585069 1537.77 A G PASS 1/1 46 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
 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 myexome-1 9 rs7037251
dbSNP Clinvar 		138391299 976.77 T A PASS 0/1 84 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
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 9 rs522328
dbSNP Clinvar 		130475011 8544.77 T C PASS 1/1 268 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 myexome-1 9 rs497632
dbSNP Clinvar 		130475442 1077.77 A C PASS 1/1 32 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
 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 myexome-1 9 rs3122944
dbSNP Clinvar 		96097747 4285.77 C T MG_SNP_Filter 1/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.63059 0.63060 0.01 0.02 None None None None None None C9orf129|0.002952224|88.72%
View myexome-1 9 rs199652907
dbSNP Clinvar 		96097916 195.77 G A MG_SNP_Filter 0/1 19 SYNONYMOUS_CODING LOW None 0.06270 0.06270 None None None None None None C9orf129|0.002952224|88.72%
View myexome-1 9 rs4744219
dbSNP Clinvar 		96097662 1015.77 G A MG_SNP_Filter 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.06290 0.06290 0.01 0.70 None None None None None None C9orf129|0.002952224|88.72%

C9orf131
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 myexome-1 9 rs615474
dbSNP Clinvar 		35043291 2835.77 G T PASS 1/1 85 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
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 9 rs10780682
dbSNP Clinvar 		72472831 1377.77 C T PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.27057 0.27060 0.26872 None None None None None None C9orf135|0.017718447|75.47%

C9orf141
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 myexome-1 9 rs11787585
dbSNP Clinvar 		139863841 706.77 C T PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.13379 0.13380 0.00 0.77 None None None None None None PRR31|0.000570688|98.07%
View myexome-1 9 rs11790360
dbSNP Clinvar 		139866247 910.77 T G PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.35803 0.35800 0.79 0.00 None None None None None None PRR31|0.000570688|98.07%
View myexome-1 9 rs12351283
dbSNP Clinvar 		139864438 377.77 G C PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.14577 0.14580 None None None None None None PRR31|0.000570688|98.07%
View myexome-1 9 rs2386136
dbSNP Clinvar 		139864341 67.77 A G PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.35803 0.35800 0.96 0.00 None None None None None None PRR31|0.000570688|98.07%
View myexome-1 9 rs11787588
dbSNP Clinvar 		139863909 734.77 C T PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.13399 0.13400 None None None None None None PRR31|0.000570688|98.07%

C9orf147
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 myexome-1 9 rs7031191
dbSNP Clinvar 		115249433 660.77 T C PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.95128 0.95130 None None None None None None C9orf147|0.002191389|90.44%,KIAA1958|0.4868177|16.47%
View myexome-1 9 rs6477940
dbSNP Clinvar 		115249262 137.03 T C PASS 1/1 4 SYNONYMOUS_CODING LOW None None None None None None None C9orf147|0.002191389|90.44%,KIAA1958|0.4868177|16.47%

C9orf152
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 myexome-1 9 rs10120707
dbSNP Clinvar 		112963504 2321.77 A G PASS 0/1 208 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
 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 myexome-1 9 rs2282192
dbSNP Clinvar 		100672338 1905.77 C T PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.58926 0.58930 0.41927 0.10 0.01 None None None None None None C9orf156|0.045575109|64.03%

C9orf169
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 myexome-1 9 rs6606566
dbSNP Clinvar 		140120396 918.77 C T PASS 1/1 28 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%