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+ Genes 365

Genes:
AASDH, ABLIM2, AC068620.1, AC079341.1, AC093677.1, AC097381.1, ACSL1, ADAMTS3, ADH1B, ADH1C, ADH4, ADH6, AFAP1, AGA, ALB, ALPK1, AMTN, ANAPC4, ANK2, ANKRD17, ANXA10, APBB2, ARAP2, ARHGEF38, ART3, ASIC5, ATP10D, BANK1, BBS7, BMP3, BOD1L1, BST1, BTC, C4orf19, C4orf21, C4orf22, C4orf27, C4orf32, C4orf33, C4orf36, C4orf40, C4orf45, C4orf50, C4orf51, CABS1, CAMK2D, CBR4, CCDC109B, CCDC110, CCDC149, CCDC158, CCNA2, CCSER1, CDKN2AIP, CENPC, CENPE, CENPU, CEP135, CEP44, CFI, CHRNA9, CLCN3, CLDN24, CLNK, CLOCK, CLRN2, CNGA1, COQ2, CORIN, COX18, CPEB2, CPZ, CRIPAK, CRMP1, CSN1S1, CWH43, CXCL1, CXCL5, CYP4V2, DCAF4L1, DCHS2, DCK, DCLK2, DCTD, DDX60L, DGKQ, DHX15, DMP1, DOK7, DSPP, DTHD1, EDNRA, EGF, ELF2, ENPEP, ENPP6, EPHA5, EREG, ETFDH, EVC, EVC2, F11, FABP2, FAM114A1, FAM149A, FAM184B, FAM198B, FAM200B, FAM218A, FAM47E, FAM53A, FAT1, FAT4, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FHDC1, FRAS1, FREM3, FRG1, FRYL, FSTL5, GABRA4, GABRB1, GABRG1, GAK, GALNTL6, GAR1, GBA3, GC, GLRA3, GLRB, GPRIN3, GRIA2, GRID2, GRK4, GRSF1, GSX2, GUCY1A3, GUF1, GYPA, GYPB, GYPE, HADH, HAUS3, HELQ, HELT, HERC3, HERC5, HGFAC, HMX1, HOPX, HPGD, HS3ST1, HSD17B11, HSPA4L, HTRA3, HTT, IBSP, IDUA, IGFBP7, IL2, ING2, INPP4B, INTU, IRF2, KCTD8, KIAA0922, KIAA1109, KIAA1211, KIAA1239, KIAA1430, KLB, KLHL2, KLHL5, KLKB1, LAP3, LARP1B, LARP7, LDB2, LGI2, LIMCH1, LIN54, LINC00955, LPHN3, LRBA, LRIT3, LRP2BP, LRPAP1, LYAR, MAEA, MAML3, MAN2B2, MANBA, MAP9, MARCH1, MED28, METTL14, MRPL1, MSANTD1, MSMO1, MTNR1A, MTTP, MXD4, NAAA, NAF1, NCAPG, NDNF, NDST3, NEIL3, NEUROG2, NFKB1, NFXL1, NKX3-2, NOA1, NOP14, NPNT, NPY2R, NR3C2, NSUN7, NUDT6, OTOP1, OTUD4, PABPC4L, PACRGL, PALLD, PAPSS1, PARM1, PCDH18, PDE5A, PDE6B, PDGFRA, PDLIM3, PDLIM5, PDS5A, PET112, PHOX2B, PI4K2B, PLA2G12A, PLK4, PLRG1, POLN, POLR2B, PPA2, PPARGC1A, PPAT, PPEF2, PPP2R2C, PRIMPOL, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, QRFPR, RAPGEF2, RBM46, RBM47, RBPJ, RELL1, REST, RFC1, RGS12, RNF175, RNF212, RP11-171N4.2, RP11-503N18.3, RP11-62N21.1, RP11-763F8.1, S100P, SCLT1, SEC24D, SEC31A, SEL1L3, SETD7, SFRP2, SH3BP2, SH3TC1, SHROOM3, SLAIN2, SLC25A31, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC4A4, SLC7A11, SLC9B1, SLIT2, SMARCA5, SMR3A, SOD3, SORCS2, SPARCL1, SPATA18, SPATA4, SPINK2, SPON2, STAP1, STOX2, STPG2, STX18, SYNPO2, TACC3, TBC1D1, TBC1D14, TBC1D19, TBC1D9, TBCK, TEC, TECRL, TENM3, TET2, THAP9, THEGL, TIFA, TIGD2, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM128, TMEM155, TMEM156, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11BNL, TMPRSS11F, TNIP2, TRIM2, TRIML1, TRIML2, TRMT44, TRPC3, TTC29, UBA6, UGT2A1, UGT2B11, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP38, USP53, UVSSA, VEGFC, WDR1, WDR17, WFS1, WHSC1, ZAR1, ZBTB49, ZCCHC4, ZFYVE28, ZNF518B, ZNF732,

+ Genes associated with diseases 88

Genes at Omim

ADAMTS3, ADH1B, ADH1C, AGA, ALB, AMTN, ANK2, BBS7, CENPE, CEP135, CFI, CNGA1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DSPP, EDNRA, EGF, ETFDH, EVC, EVC2, F11, FAT4, FGFR3, FRAS1, GABRB1, GLRB, GRID2, GUCY1A3, GUF1, GYPA, GYPB, HMX1, HPGD, HTT, IDUA, IGFBP7, INTU, KIAA1109, KLKB1, LARP7, LRBA, LRIT3, LRPAP1, MANBA, MSMO1, MTTP, NFKB1, NKX3-2, NR3C2, PALLD, PDE6B, PDGFRA, PHOX2B, PLK4, PPA2, PRSS12, RAPGEF2, RBPJ, REST, RNF212, SEC24D, SH3BP2, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC4A4, SOD3, SPINK2, TBCK, TEC, TECRL, TENM3, TET2, TLL1, TLR2, TLR3, TMEM165, TRIM2, TRPC3, UGT2B17, UVSSA, VEGFC, WFS1,
ADAMTS3 ?Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3)
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
AGA Aspartylglucosaminuria, 208400 (3)
ALB Analbuminemia, 616000 (3)
[Dysalbuminemic hyperthyroxinemia], 615999 (3)
AMTN ?Amelogenesis imperfecta, type IIIB, 617607 (3)
ANK2 Cardiac arrhythmia, ankyrin-B-related, 600919 (3)
Long QT syndrome 4, 600919 (3)
BBS7 Bardet-Biedl syndrome 7, 615984 (3)
CENPE ?Microcephaly 13, primary, autosomal recessive, 616051 (3)
CEP135 Microcephaly 8, primary, autosomal recessive, 614673 (3)
CFI {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
{Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
Complement factor I deficiency, 610984 (3)
CNGA1 Retinitis pigmentosa 49, 613756 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
CORIN Preeclampsia/eclampsia 5, 614595 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
DMP1 Hypophosphatemic rickets, AR, 241520 (3)
DOK7 ?Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 10, 254300 (3)
DSPP Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3)
Dentin dysplasia, type II, 125420 (3)
Dentinogenesis imperfecta, Shields type II, 125490 (3)
Dentinogenesis imperfecta, Shields type III, 125500 (3)
EDNRA {Migraine, resistance to}, 157300 (3)
Mandibulofacial dysostosis with alopecia, 616367 (3)
EGF Hypomagnesemia 4, renal, 611718 (3)
ETFDH Glutaric acidemia IIC, 231680 (3)
EVC Ellis-van Creveld syndrome, 225500 (3)
?Weyers acrofacial dysostosis, 193530 (3)
EVC2 Ellis-van Creveld syndrome, 225500 (3)
Weyers acrofacial dysostosis, 193530 (3)
F11 Factor XI deficiency, autosomal dominant, 612416 (3)
Factor XI deficiency, autosomal recessive, 612416 (3)
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Van Maldergem syndrome 2, 615546 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FRAS1 Fraser syndrome 1, 219000 (3)
GABRB1 Epileptic encephalopathy, early infantile, 45, 617153 (3)
GLRB Hyperekplexia 2, 614619 (3)
GRID2 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)
GUCY1A3 Moyamoya 6 with achalasia, 615750 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
GYPA {Malaria, resistance to}, 611162 (3)
[Blood group, MNSs system], 111300 (3)
GYPB {Malaria, resistance to}, 611162 (3)
[Blood group, Ss], 111740 (3)
HMX1 Oculoauricular syndrome, 612109 (3)
HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1, 259100 (3)
Cranioosteoarthropathy, 259100 (3)
Digital clubbing, isolated congenital, 119900 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IDUA Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
IGFBP7 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
INTU ?Orofaciodigital syndrome XVII, 617926 (3)
?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3)
KIAA1109 Alkuraya-Kucinskas syndrome, 617822 (3)
KLKB1 Fletcher factor (prekallikrein) deficiency, 612423 (3)
LARP7 Alazami syndrome, 615071 (3)
LRBA Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
MANBA Mannosidosis, beta, 248510 (3)
MSMO1 Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3)
MTTP Abetalipoproteinemia, 200100 (3)
{Metabolic syndrome, protection against}, 605552 (3)
NFKB1 Immunodeficiency, common variable, 12, 616576 (3)
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
PALLD {Pancreatic cancer, susceptibility to, 1}, 606856 (3)
PDE6B Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
Retinitis pigmentosa-40, 613801 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PHOX2B Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)
{Neuroblastoma, susceptibility to, 2}, 613013 (3)
Neuroblastoma with Hirschsprung disease, 613013 (3)
PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)
PPA2 ?Sudden cardiac failure, alcohol-induced, 617223 (3)
Sudden cardiac failure, infantile, 617222 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
RAPGEF2 ?Epilepsy, familial adult myoclonic, 7, 618075 (3)
RBPJ Adams-Oliver syndrome 3, 614814 (3)
REST Fibromatosis, gingival, 5, 617626 (3)
{Wilms tumor 6, susceptibility to}, 616806 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SEC24D Cole-Carpenter syndrome 2, 616294 (3)
SH3BP2 Cherubism, 118400 (3)
SLC26A1 ?Nephrolithiasis, calcium oxalate, 167030 (3)
SLC2A9 Hypouricemia, renal, 2, 612076 (3)
{Uric acid concentration, serum, QTL 2}, 612076 (3)
SLC30A9 ?Birk-Landau-Perez syndrome, 617595 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC39A8 Congenital disorder of glycosylation, type IIn, 616721 (3)
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SOD3 [Superoxide dismutase, elevated extracellular] (3)
SPINK2 ?Spermatogenic failure 29, 618091 (3)
TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)
TEC Transient erythroblastopenia of childhood (2)
TECRL Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TET2 Myelodysplastic syndrome, somatic, 614286 (3)
TLL1 Atrial septal defect 6, 613087 (3)
TLR2 {Leprosy, susceptibility to}, 246300 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TMEM165 Congenital disorder of glycosylation, type IIk, 614727 (3)
TRIM2 Charcot-Marie-Tooth disease, type 2R, 615490 (3)
TRPC3 ?Spinocerebellar ataxia 41, 616410 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
VEGFC Lymphatic malformation 4, 615907 (3)
WFS1 Deafness, autosomal dominant 6/14/38, 600965 (3)
?Cataract 41, 116400 (3)
Wolfram syndrome 1, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)

Genes at Clinical Genomics Database

AGA, ALB, ANK2, BBS7, CENPE, CEP135, CFI, CNGA1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DSPP, EDNRA, EGF, ETFDH, EVC, EVC2, F11, FAT4, FGFR3, FRAS1, GLRB, GRID2, GUCY1A3, GYPA, GYPB, HADH, HMX1, HPGD, HTT, IDUA, IGFBP7, KLKB1, LARP7, LRBA, LRIT3, LRPAP1, MANBA, MSMO1, MTTP, NFKB1, NKX3-2, NR3C2, PDE6B, PDGFRA, PHOX2B, PLK4, PRIMPOL, PRSS12, RBPJ, REST, SH3BP2, SLC2A9, SLC34A2, SLC39A8, SLC4A4, TENM3, TLL1, TLR3, TMEM165, TRIM2, TRPC3, UVSSA, VEGFC, WFS1,
AGA Aspartylglucosaminuria
ALB Dysalbuminemic hyperthyroxinemia
Analbuminemia
ANK2 Long QT syndrome, 4
Cardiac arrhythmia, ankyrin-B-related
BBS7 Bardet-Biedl syndrome 7
CENPE Microcephaly 13, primary, autosomal recessive
CEP135 Microcephaly 8, primary, autosomal recessive
CFI Hemolytic uremic syndrome, atypical
Complement factor I deficiency
CNGA1 Retinitis pigmentosa 49
COQ2 Coenzyme Q10 deficiency 1
CORIN Preeclampsia/eclampsia 5
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
DMP1 Hypophosphatemic rickets, autosomal recessive 1
DOK7 Myasthenic syndrome, congenital 10
DSPP Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
EDNRA Mandibulofacial dysostosis with alopecia
EGF Hypomagnesemia 4, renal
ETFDH Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
EVC Ellis-van Creveld syndrome
Weyers acrofacial dysostosis
EVC2 Ellis-van Creveld syndrome
Weyers acrodental dysostosis
F11 Factor XI deficiency
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
FRAS1 Fraser syndrome
GLRB Hyperekplexia 2
GRID2 Spinocerebellar ataxia, autosomal recessive 18
GUCY1A3 Moyamoya disease 6 with achalasia
GYPA Blood group, MN locus
Blood group, Erik
GYPB Blood group, Ss
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
HMX1 Oculoauricular syndrome
HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1
Cranioosteoarthropathy
Digital clubbing, isolated congenital
HTT Huntington disease
IDUA Mucopolysaccharidosis type I
IGFBP7 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
KLKB1 Prekallikrein deficiency
LARP7 Alazami syndrome
LRBA Common variable immunodeficiency 8, with autoimmunity
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive
LRPAP1 Myopia 23, autosomal recessive
MANBA Mannosidosis, beta A, lysosomal
MSMO1 Microcephaly, congenital cataract, and psoriasiform dermatitis
MTTP Abetalipoproteinemia
NFKB1 Immunodeficiency, common variable, 12
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia
NR3C2 Pseudohypoaldosteronism type I, autosomal dominant
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
PDE6B Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa 40
PDGFRA Gastrointestinal stromal tumor
PHOX2B Central hypoventilation syndrome, congenital
Neuroblastoma with Hirschsprung disease
Neuroblastoma, susceptiblity to, 2
PLK4 Microcephaly and chorioretinopathy, autosomal recessive 2
PRIMPOL Myopia 22, autosomal dominant
PRSS12 Mental retardation, autosomal recessive 1
RBPJ Adams-Oliver syndrome 3
REST Wilms tumor 6, susceptibility to
SH3BP2 Cherubism
SLC2A9 Hypouricemia, renal, 2
SLC34A2 Pulmonary alveolar microlithiasis
SLC39A8 Congenital disorder of glycosylation, type IIn
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
TENM3 Microphthalmia, isolated, with coloboma 9
TLL1 Atrial septal defect 6
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TMEM165 Congenital disorder of glycosylation, type IIk
TRIM2 Charcot-Marie-Tooth disease, axonal, type 2R
TRPC3 Spinocerebellar ataxia 41
UVSSA UV-sensitive syndrome 3
VEGFC Lymphedema, hereditary, ID
WFS1 Wolfram syndrome

Genes at HGMD

Summary

Number of Variants: 1805
Number of Genes: 365

Export to: CSV

AASDH
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 4 rs3796544
dbSNP Clinvar 		57215677 12170.77 G A PASS 1/1 372 NON_SYNONYMOUS_CODING MODERATE None 0.27796 0.27800 0.38059 0.49 0.00 None None None None None None AASDH|0.054593955|61.31%
View 73411510240357_annotated 4 rs6554354
dbSNP Clinvar 		57237683 7145.77 G A PASS 1/1 215 SYNONYMOUS_CODING LOW None 0.27796 0.27800 0.38044 None None None None None None AASDH|0.054593955|61.31%
View 73411510240357_annotated 4 rs6554348
dbSNP Clinvar 		57219592 2287.77 G A PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.64577 0.64580 0.37152 None None None None None None AASDH|0.054593955|61.31%

ABLIM2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs202123060
dbSNP Clinvar 		8079430 4288.77 G A PASS 0/1 273 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.00227 None None None None None None ABLIM2|0.046835245|63.64%

AC068620.1
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 73411510240357_annotated 4 rs2176785
dbSNP Clinvar 		57276739 1095.77 G C PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.38498 0.38500 0.01 0.42 None None None None None None PPAT|0.443666776|18.5%

AC079341.1
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 73411510240357_annotated 4 rs13108419
dbSNP Clinvar 		122687238 933.77 A G PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.29333 0.29330 None None None None None None None

AC093677.1
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 73411510240357_annotated 4 rs6840665
dbSNP Clinvar 		75023609 3358.77 T C PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.98622 0.98620 None None None None None None MTHFD2L|0.173905555|39.79%
View 73411510240357_annotated 4 rs2289443
dbSNP Clinvar 		75023709 3862.77 C T PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.69429 0.69430 0.00 None None None None None None MTHFD2L|0.173905555|39.79%

AC097381.1
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 73411510240357_annotated 4 rs58349148
dbSNP Clinvar 		7941346 62.77 G C PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.34585 0.34580 0.89 0.00 None None None None None None AFAP1|0.028735408|70.06%
View 73411510240357_annotated 4 rs60272249
dbSNP Clinvar 		7941318 59.77 T C PASS 0/1 8 SYNONYMOUS_CODING LOW None 0.34645 0.34640 None None None None None None AFAP1|0.028735408|70.06%
View 73411510240357_annotated 4 rs7669645
dbSNP Clinvar 		7940915 1675.77 C T PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.32049 0.32050 0.00 0.86 None None None None None None AFAP1|0.028735408|70.06%
View 73411510240357_annotated 4 rs7695170
dbSNP Clinvar 		7940903 1540.77 A G PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.34944 0.34940 1.00 0.00 None None None None None None AFAP1|0.028735408|70.06%

ACSL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs2292898
dbSNP Clinvar 		185686032 1470.77 C T PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.83147 0.83150 0.25442 None None None None None None ACSL1|0.105455707|50.16%
View 73411510240357_annotated 4 rs1803898
dbSNP Clinvar 		185701549 1484.77 G T PASS 0/1 123 SYNONYMOUS_CODING LOW None 0.16074 0.16070 0.24704 None None None None None None ACSL1|0.105455707|50.16%

ADAMTS3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs788908
dbSNP Clinvar 		73414286 3338.77 C T PASS 0/1 237 NON_SYNONYMOUS_CODING MODERATE None 0.64297 0.64300 0.31570 0.49 0.00 None None None None None None ADAMTS3|0.36423469|23.14%

ADH1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs6413413
dbSNP Clinvar 		100239284 2488.77 T A PASS 0/1 182 NON_SYNONYMOUS_CODING MODERATE None 0.00419 0.00419 0.00384 0.78 0.00 None None None None None None ADH1B|0.074839204|56.32%
View 73411510240357_annotated 4 rs1789882
dbSNP Clinvar 		100235053 5278.77 A G PASS 0/1 427 SYNONYMOUS_CODING LOW None 0.82967 0.82970 0.19151 None None None None None None ADH1B|0.074839204|56.32%
View 73411510240357_annotated 4 rs1229984
dbSNP Clinvar 		100239319 7178.77 T C PASS 1/1 231 NON_SYNONYMOUS_CODING MODERATE None 0.84145 0.84150 0.03652 0.65 0.00 None None None None None None ADH1B|0.074839204|56.32%

ADH1C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs698
dbSNP Clinvar 		100260789 4700.77 T C PASS 1/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.21426 0.21430 0.30751 0.00 None None None None None None None
View 73411510240357_annotated 4 rs1693425
dbSNP Clinvar 		100266112 7652.77 C T PASS 1/1 225 SYNONYMOUS_CODING LOW None 0.21446 0.21450 0.30617 None None None None None None None
View 73411510240357_annotated 4 rs1693482
dbSNP Clinvar 		100263965 13442.77 C T PASS 1/1 408 NON_SYNONYMOUS_CODING MODERATE None 0.21426 0.21430 0.30478 0.02 None None None None None None None

ADH4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs2032349
dbSNP Clinvar 		100062819 1784.77 A G PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.96406 0.96410 0.04121 None None None None None None ADH4|0.01057839|80.46%
View 73411510240357_annotated 4 rs1126673
dbSNP Clinvar 		100045616 376.77 C T PASS 0/1 43 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.84724 0.84720 0.26992 1.00 0.00 None None None None None None ADH4|0.01057839|80.46%
View 73411510240357_annotated 4 rs1126671
dbSNP Clinvar 		100048414 2258.77 T C PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.84705 0.84700 0.26911 0.69 0.00 None None None None None None ADH4|0.01057839|80.46%
View 73411510240357_annotated 4 rs1126670
dbSNP Clinvar 		100052733 1008.77 C A PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.84724 0.84720 0.26872 None None None None None None ADH4|0.01057839|80.46%

ADH6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs4699735
dbSNP Clinvar 		100140306 3637.77 A T PASS 1/1 116 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00031 1.00 0.00 None None None None None None ADH6|0.003690924|87.44%

AFAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs2285761
dbSNP Clinvar 		7770723 1141.77 G T PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.37021 0.37020 0.20798 None None None None None None AFAP1|0.028735408|70.06%
View 73411510240357_annotated 4 rs114329356
dbSNP Clinvar 		7765501 1572.77 G A PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.00180 0.00180 0.00623 None None None None None None AFAP1|0.028735408|70.06%
View 73411510240357_annotated 4 rs61742221
dbSNP Clinvar 		7857230 1949.77 C T PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.17812 0.17810 0.32301 None None None None None None AFAP1|0.028735408|70.06%
View 73411510240357_annotated 4 rs11728778
dbSNP Clinvar 		7802292 2271.77 G A PASS 0/1 154 SYNONYMOUS_CODING LOW None 0.11162 0.11160 0.21936 None None None None None None AFAP1|0.028735408|70.06%
View 73411510240357_annotated 4 rs28542374
dbSNP Clinvar 		7783163 2655.77 G A PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.62540 0.62540 0.40035 None None None None None None AFAP1|0.028735408|70.06%
View 73411510240357_annotated 4 rs41264705
dbSNP Clinvar 		7780582 969.77 C T PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.11062 0.11060 0.21667 0.13 0.02 None None None None None None AFAP1|0.028735408|70.06%

AGA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs2228119
dbSNP Clinvar 		178359960 2102.77 G C PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.07474 0.45 0.00 None None None None None None AGA|0.096232451|51.89%

ALB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs962004
dbSNP Clinvar 		74285239 1485.77 C T PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.48343 0.48340 0.48170 None None None None None None ALB|0.999994036|0.04%

ALPK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs231247
dbSNP Clinvar 		113359703 3548.77 A G PASS 0/1 269 SYNONYMOUS_CODING LOW None 0.66134 0.66130 0.32001 None None None None None None ALPK1|0.013394495|78.25%
View 73411510240357_annotated 4 rs11726117
dbSNP Clinvar 		113353285 2398.77 T C PASS 0/1 176 NON_SYNONYMOUS_CODING MODERATE None 0.65855 0.65850 0.31931 0.44 0.00 None None None None None None ALPK1|0.013394495|78.25%
View 73411510240357_annotated 4 rs13148353
dbSNP Clinvar 		113352628 1549.77 A G PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.65855 0.65850 0.31978 0.27 0.00 None None None None None None ALPK1|0.013394495|78.25%
View 73411510240357_annotated 4 rs2074379
dbSNP Clinvar 		113352899 1338.77 G A PASS 0/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.62680 0.62680 0.34623 0.34 0.00 None None None None None None ALPK1|0.013394495|78.25%
View 73411510240357_annotated 4 rs2074388
dbSNP Clinvar 		113352397 1234.77 G A PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.62740 0.62740 0.34615 0.25 0.04 None None None None None None ALPK1|0.013394495|78.25%
View 73411510240357_annotated 4 rs17044681
dbSNP Clinvar 		113353052 1122.77 C T PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.04932 0.04932 0.10472 None None None None None None ALPK1|0.013394495|78.25%
View 73411510240357_annotated 4 rs6533616
dbSNP Clinvar 		113345147 658.77 A G PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.05072 0.05072 0.09888 0.04 0.01 None None None None None None ALPK1|0.013394495|78.25%

AMTN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs17676820
dbSNP Clinvar 		71396989 1128.77 C T PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.27376 0.27380 0.35330 None None None None None None AMTN|0.018262621|75.13%

ANAPC4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs34811474
dbSNP Clinvar 		25408838 516.77 G A PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.07408 0.07408 0.15890 0.10 0.03 None None None None None None ANAPC4|0.398023643|20.91%
View 73411510240357_annotated 4 rs9174
dbSNP Clinvar 		25419283 3332.77 T C PASS 0/1 266 SYNONYMOUS_CODING LOW None 0.50240 0.50240 0.39782 None None None None None None ANAPC4|0.398023643|20.91%

ANK2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs7689214
dbSNP Clinvar 		114067145 1149.77 G A PASS 0/1 101 None None None 0.18411 0.18410 0.36 0.02 None None None None None None ANK2|0.34993042|24.11%
View 73411510240357_annotated 4 rs55847200
dbSNP Clinvar 		114067061 578.77 G T PASS 0/1 50 None None None 0.00160 0.00160 0.00 0.92 None None None None None None ANK2|0.34993042|24.11%

ANKRD17
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs6822576
dbSNP Clinvar 		73991006 2517.77 T C PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.99740 0.99740 0.00369 None None None None None None ANKRD17|0.584903468|12.36%
View 73411510240357_annotated 4 rs6855349
dbSNP Clinvar 		73956736 4023.77 G A PASS 0/1 307 SYNONYMOUS_CODING LOW None 0.35184 0.35180 0.36921 None None None None None None ANKRD17|0.584903468|12.36%

ANXA10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs4405979
dbSNP Clinvar 		169086441 1157.77 A G PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.37204 None None None None None None ANXA10|0.100130698|51.14%
View 73411510240357_annotated 4 rs477897
dbSNP Clinvar 		169098914 1645.77 A G PASS 0/1 137 SYNONYMOUS_CODING LOW None 0.11482 0.11480 0.17861 None None None None None None ANXA10|0.100130698|51.14%
View 73411510240357_annotated 4 rs6836994
dbSNP Clinvar 		169083694 2328.77 A C PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.53315 0.53310 0.37214 1.00 0.00 None None None None None None ANXA10|0.100130698|51.14%

APBB2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs2292234
dbSNP Clinvar 		41015823 3934.77 G A PASS 0/1 320 SYNONYMOUS_CODING LOW None 0.13259 0.30730 0.18615 None None None None None None APBB2|0.401070014|20.7%
View 73411510240357_annotated 4 rs4861358
dbSNP Clinvar 		41015899 3568.77 C T PASS 0/1 254 NON_SYNONYMOUS_CODING MODERATE None 0.67412 0.67410 0.34970 0.65 0.00 None None None None None None APBB2|0.401070014|20.7%

ARAP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs35822395
dbSNP Clinvar 		36230843 1693.77 G A PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.00559 0.00559 0.01100 0.44 0.00 None None None None None None ARAP2|0.117132933|47.92%
View 73411510240357_annotated 4 rs4833069
dbSNP Clinvar 		36081878 8076.77 C T PASS 1/1 252 NON_SYNONYMOUS_CODING MODERATE None 0.99521 0.99520 0.00746 0.80 0.00 None None None None None None ARAP2|0.117132933|47.92%

ARHGEF38
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs13147012
dbSNP Clinvar 		106580340 1575.77 A G PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.35603 0.35600 0.86 0.00 None None None None None None ARHGEF38|0.075305724|56.22%
View 73411510240357_annotated 4 rs6533206
dbSNP Clinvar 		106474096 1364.77 T C PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.99980 0.99980 None None None None None None ARHGEF38|0.075305724|56.22%
View 73411510240357_annotated 4 rs2276970
dbSNP Clinvar 		106510470 1684.77 A G PASS 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.08786 0.08786 0.09526 0.30 0.00 None None None None None None ARHGEF38|0.075305724|56.22%

ART3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs1128864
dbSNP Clinvar 		77033590 3011.77 C T PASS 0/1 253 NON_SYNONYMOUS_CODING MODERATE None 0.48383 0.48380 0.37260 0.05 0.02 None None None None None None ART3|0.030297824|69.28%

ASIC5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs6848883
dbSNP Clinvar 		156787340 3014.77 G A PASS 1/1 94 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84844 0.84840 0.16333 None None None None None None ASIC5|0.031479338|68.79%,TDO2|0.067292674|58.09%

ATP10D
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs1316874
dbSNP Clinvar 		47589203 3271.77 G A PASS 0/1 257 SYNONYMOUS_CODING LOW None 0.17093 0.17090 0.07235 None None None None None None ATP10D|0.06998296|57.49%
View 73411510240357_annotated 4 rs16851681
dbSNP Clinvar 		47578971 2875.77 G A PASS 0/1 237 NON_SYNONYMOUS_CODING MODERATE None 0.28195 0.28190 0.27057 1.00 0.00 None None None None None None ATP10D|0.06998296|57.49%

BANK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs17853030
dbSNP Clinvar 		102946392 2563.77 G A PASS 0/1 223 SYNONYMOUS_CODING LOW None 0.02236 0.02236 0.04629 None None None None None None BANK1|0.027814487|70.51%
View 73411510240357_annotated 4 rs3113676
dbSNP Clinvar 		102965043 1607.77 T C PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00938 0.40 0.00 None None None None None None BANK1|0.027814487|70.51%

BBS7
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 4 rs146617227
dbSNP Clinvar 		122766731 741.77 T C PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.00020 0.00069 None None None None None None BBS7|0.399631131|20.8%

BMP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs6831040
dbSNP Clinvar 		81967188 6284.77 C T PASS 1/1 180 NON_SYNONYMOUS_CODING MODERATE None 0.99880 0.99880 0.00108 0.04 0.15 None None None None None None BMP3|0.245532193|31.98%

BOD1L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs3733557
dbSNP Clinvar 		13601337 1436.77 G A PASS 0/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.10863 0.10860 0.10941 0.00 None None None None None None BOD1L1|0.019781318|74.3%
View 73411510240357_annotated 4 rs1971278
dbSNP Clinvar 		13606576 7234.77 A T PASS 1/1 212 NON_SYNONYMOUS_CODING MODERATE None 0.72424 0.72420 0.33646 0.00 None None None None None None BOD1L1|0.019781318|74.3%
View 73411510240357_annotated 4 rs2035820
dbSNP Clinvar 		13615174 3882.77 G A PASS 0/1 336 NON_SYNONYMOUS_CODING MODERATE None 0.13738 0.13740 0.15270 0.00 None None None None None None BOD1L1|0.019781318|74.3%
View 73411510240357_annotated 4 rs17745712
dbSNP Clinvar 		13604418 4707.77 G C PASS 0/1 402 NON_SYNONYMOUS_CODING MODERATE None 0.13878 0.13880 0.15462 0.00 None None None None None None BOD1L1|0.019781318|74.3%
View 73411510240357_annotated 4 rs61995953
dbSNP Clinvar 		13600993 2318.77 T G PASS 0/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.00479 0.00479 0.00969 0.33 None None None None None None BOD1L1|0.019781318|74.3%
View 73411510240357_annotated 4 rs17745676
dbSNP Clinvar 		13604182 4499.77 T C PASS 0/1 268 NON_SYNONYMOUS_CODING MODERATE None 0.13279 0.13280 0.14993 0.03 None None None None None None BOD1L1|0.019781318|74.3%

BST1
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 4 rs2302465
dbSNP Clinvar 		15709192 5286.77 G A PASS 0/1 356 NON_SYNONYMOUS_CODING MODERATE None 0.05851 0.05851 0.09265 0.05 1.00 None None None None None None BST1|0.03152246|68.79%
View 73411510240357_annotated 4 rs3900588
dbSNP Clinvar 		15739416 1505.77 G C PASS 0/1 132 None None None 0.09585 0.09585 None None None None None None BST1|0.03152246|68.79%
View 73411510240357_annotated 4 rs4320134
dbSNP Clinvar 		15739428 1331.77 A T PASS 0/1 122 None None None 0.21745 0.21750 None None None None None None BST1|0.03152246|68.79%

BTC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs11938093
dbSNP Clinvar 		75675841 2116.77 A T PASS 0/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.19988 0.19990 0.26703 0.00 0.99 None None None None None None BTC|0.03501421|67.46%

C4orf19
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 4 rs2973275
dbSNP Clinvar 		37592128 1420.77 G A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.12820 0.12820 0.19314 0.22 0.36 None None None None None None C4orf19|0.001000063|95.43%

C4orf21
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs7696816
dbSNP Clinvar 		113539969 1888.77 T C PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.41773 0.41770 0.39059 0.84 0.00 None None None None None None ZGRF1|0.009414911|81.37%

C4orf22
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs1052325
dbSNP Clinvar 		81884722 3814.77 G A PASS 1/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.81050 0.81050 0.22293 0.71 0.00 None None None None None None C4orf22|0.322733711|25.98%
View 73411510240357_annotated 4 rs2867782
dbSNP Clinvar 		81529518 4654.77 T C PASS 1/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.95687 0.95690 0.83 0.00 None None None None None None C4orf22|0.322733711|25.98%

C4orf27
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs1047642
dbSNP Clinvar 		170663235 1531.77 C T PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.78954 0.78950 0.21852 1.00 0.00 None None None None None None C4orf27|0.233972721|33.01%
View 73411510240357_annotated 4 rs11540095
dbSNP Clinvar 		170678993 775.77 T C PASS 1/1 23 SYNONYMOUS_CODING LOW None 0.77736 0.77740 0.22341 None None None None None None C4orf27|0.233972721|33.01%

C4orf32
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs10002700
dbSNP Clinvar 		113066831 55.74 G A PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00283 1.00 0.00 None None None None None None C4orf32|0.064051223|58.88%

C4orf33
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs337277
dbSNP Clinvar 		130030652 2806.77 A G PASS 0/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.69509 0.69510 0.30263 1.00 0.00 None None None None None None C4orf33|0.075968961|56.1%

C4orf36
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs1550931
dbSNP Clinvar 		87809387 10060.77 G T PASS 1/1 314 NON_SYNONYMOUS_CODING MODERATE None 0.88339 0.88340 0.09365 1.00 0.00 None None None None None None C4orf36|0.004973554|85.85%

C4orf40
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs1612460
dbSNP Clinvar 		71024099 1297.77 A G PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.03854 0.03854 0.08419 0.20 0.09 None None None None None None PRR27|0.000141121|99.88%

C4orf45
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs662473
dbSNP Clinvar 		159894305 4873.77 T C PASS 1/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.98103 0.98100 0.01700 1.00 0.00 None None None None None None C4orf45|0.003496909|87.79%
View 73411510240357_annotated 4 rs9784569
dbSNP Clinvar 		159881479 281.77 T C PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.20268 0.20270 0.23972 None None None None None None C4orf45|0.003496909|87.79%
View 73411510240357_annotated 4 rs619128
dbSNP Clinvar 		159894250 3075.77 C T PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.97863 0.97860 0.02086 1.00 0.00 None None None None None None C4orf45|0.003496909|87.79%

C4orf50
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs4234711
dbSNP Clinvar 		5991384 4786.77 T C PASS 0/1 355 NON_SYNONYMOUS_CODING MODERATE None 0.73802 0.73800 1.00 0.00 None None None None None None C4orf50|0.000584752|98.01%
View 73411510240357_annotated 4 rs4266238
dbSNP Clinvar 		5991476 2123.77 G A PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.65316 0.65320 0.18 0.14 None None None None None None C4orf50|0.000584752|98.01%
View 73411510240357_annotated 4 rs16838009
dbSNP Clinvar 		5991429 3778.77 C T PASS 0/1 266 NON_SYNONYMOUS_CODING MODERATE None 0.03335 0.03335 0.42 0.07 None None None None None None C4orf50|0.000584752|98.01%
View 73411510240357_annotated 4 rs6839295
dbSNP Clinvar 		5966801 1944.77 T C PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.27616 0.27620 0.32685 1.00 0.00 None None None None None None C4orf50|0.000584752|98.01%
View 73411510240357_annotated 4 rs6845455
dbSNP Clinvar 		5990339 2170.77 G A PASS 0/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.69828 0.69830 0.16 0.00 None None None None None None C4orf50|0.000584752|98.01%
View 73411510240357_annotated 4 rs751240
dbSNP Clinvar 		5990599 4800.77 T C PASS 1/1 144 SYNONYMOUS_CODING LOW None 0.96206 0.96210 None None None None None None C4orf50|0.000584752|98.01%
View 73411510240357_annotated 4 rs2016083
dbSNP Clinvar 		5990791 3816.77 A G PASS 0/1 289 SYNONYMOUS_CODING LOW None 0.72524 0.72520 None None None None None None C4orf50|0.000584752|98.01%

C4orf51
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 4 rs10008599
dbSNP Clinvar 		146653620 1814.77 G A PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.07708 0.07708 0.12114 0.31 0.01 None None None None None None C4orf51|0.00215787|90.56%

CABS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs1351419
dbSNP Clinvar 		71201388 7072.77 C T PASS 1/1 204 NON_SYNONYMOUS_CODING MODERATE None 0.92352 0.92350 0.09589 0.48 0.00 None None None None None None CABS1|0.003869686|87.19%

CAMK2D
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs11098193
dbSNP Clinvar 		114429407 1298.77 C T PASS 0/1 100 None None None 0.12899 0.12900 0.17856 None None None None None None CAMK2D|0.555048734|13.51%

CBR4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 73411510240357_annotated 4 rs2877380
dbSNP Clinvar 		169928842 1523.77 G T PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.72005 0.72000 0.33264 0.22 0.01 None None None None None None CBR4|0.148986414|43.14%