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Genes:
AASDH, ABLIM2, ACOX3, ACSL1, ADAMTS3, ADD1, ADH1B, ADH1C, ADH4, ADH6, AFAP1, AFF1, AFP, AGA, AGPAT9, ALB, ALPK1, AMBN, AMTN, ANKRD17, ANKRD50, ANTXR2, ANXA10, ANXA5, APBB2, ARAP2, ARHGAP24, ARHGEF38, ASIC5, ATP10D, BANK1, BBS12, BDH2, BMP3, C4orf17, C4orf19, C4orf21, C4orf22, C4orf27, C4orf33, C4orf36, C4orf45, C4orf47, CABS1, CBR4, CCDC109B, CCDC110, CCDC158, CCNA2, CCSER1, CENPC, CENPU, CFI, CHRNA9, CLCN3, CLDN24, CLNK, CLRN2, COL25A1, COQ2, CORIN, COX18, CPEB2, CPZ, CRMP1, CSN1S1, CWH43, CXCL1, CXCL5, CYP4V2, CYTL1, DCHS2, DCLK2, DCTD, DDX60L, DGKQ, DKK2, DMP1, DOK7, DRD5, DSPP, DTHD1, EDNRA, EGF, ELF2, ENAM, ENPEP, ENPP6, EPHA5, ETFDH, ETNPPL, EVC, EVC2, EXOC1, FABP2, FAM114A1, FAM13A, FAM149A, FAM160A1, FAM175A, FAM184B, FAM198B, FAM47E, FAT1, FAT4, FGB, FGFBP1, FGFBP2, FGFR3, FGFRL1, FNIP2, FRAS1, FREM3, FRG1, FRYL, FSTL5, GABRA4, GABRB1, GAK, GALNTL6, GAR1, GBA3, GC, GK2, GLRA3, GLRB, GPR125, GRIA2, GRID2, GRK4, GRXCR1, GSX2, GUCY1A3, GYPE, HADH, HAUS3, HELQ, HERC3, HERC5, HERC6, HGFAC, HPGD, HPSE, HSD17B11, HSPA4L, HTT, IBSP, IDUA, IL2, IL21, ING2, INPP4B, INTU, IRF2, KDR, KIAA0922, KIAA1109, KIAA1211, KIAA1239, KIAA1430, KLB, KLHL2, KLKB1, LARP1B, LARP7, LCORL, LETM1, LGI2, LIN54, LPHN3, LRIT3, LRPAP1, LYAR, MAML3, MAN2B2, MANBA, MAP9, MSANTD1, MTTP, MUC7, MXD4, NAAA, NAF1, NAP1L5, NCAPG, NDNF, NDST3, NEIL3, NEK1, NEUROG2, NFKB1, NFXL1, NKX3-2, NOA1, NOP14, NPNT, NPY2R, NPY5R, NR3C2, OTOP1, PAPSS1, PARM1, PCDH18, PDE5A, PDE6B, PDGFRA, PDLIM3, PDLIM5, PI4K2B, PLK4, POLN, POLR2B, POU4F2, PPARGC1A, PPAT, PPEF2, PPID, PPP2R2C, PRDM5, PRDM8, PRIMPOL, PROL1, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, PYURF, RASSF6, RBM46, RBM47, RBPJ, RGS12, RNF175, RNF212, RP11-503N18.3, RPL9, S100P, SCD5, SCFD2, SCLT1, SDAD1, SEC24B, SEC24D, SEC31A, SEPSECS, SFRP2, SH3BP2, SH3RF1, SH3TC1, SHISA3, SHROOM3, SLBP, SLC10A6, SLC25A31, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC4A4, SLC7A11, SLC9B1, SMARCA5, SMARCAD1, SMR3A, SOD3, SORBS2, SORCS2, SOWAHB, SPARCL1, SPATA18, SPATA4, SPOCK3, SPON2, SPP1, SRP72, STAP1, STIM2, STPG2, SYNPO2, TACC3, TBC1D1, TBC1D19, TBC1D9, TBCK, TEC, TENM3, TET2, THAP9, TIFA, TIGD4, TKTL2, TLL1, TLR1, TLR10, TLR2, TLR3, TLR6, TMEM155, TMEM156, TMEM175, TMPRSS11A, TMPRSS11B, TMPRSS11BNL, TMPRSS11E, TMPRSS11F, TNIP2, TNIP3, TRAPPC11, TRIM2, TRIML1, TRIML2, TRMT44, TRPC3, TXK, UGT2A1, UGT2A3, UGT2B11, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP38, UVSSA, VEGFC, WDFY3, WDR1, WDR17, WDR19, WFS1, WWC2, YIPF7, YTHDC1, ZAR1, ZBTB49, ZCCHC4, ZFYVE28, ZNF732,

Genes at Omim

ADAMTS3, ADD1, ADH1B, ADH1C, AFP, AGA, ALB, AMBN, AMTN, ANTXR2, ANXA5, BBS12, CFI, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DRD5, DSPP, EDNRA, EGF, ENAM, ETFDH, EVC, EVC2, FAT4, FGB, FGFR3, FRAS1, GABRB1, GLRB, GRID2, GRXCR1, GUCY1A3, HPGD, HTT, IDUA, IL21, INTU, KDR, KIAA1109, KLKB1, LARP7, LRIT3, LRPAP1, MANBA, MTTP, MUC7, NEK1, NFKB1, NKX3-2, NR3C2, PDE6B, PDGFRA, PLK4, PRDM5, PRDM8, PRSS12, RBPJ, RNF212, SEC24D, SEPSECS, SH3BP2, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC4A4, SMARCAD1, SOD3, SRP72, TBCK, TEC, TENM3, TET2, TLL1, TLR1, TLR2, TLR3, TRAPPC11, TRIM2, TRPC3, UGT2B17, UVSSA, VEGFC, WDFY3, WDR19, WFS1,
ADAMTS3 ?Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3)
ADD1 {Hypertension, essential, salt-sensitive}, 145500 (3)
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
AFP Alpha-fetoprotein deficiency, 615969 (3)
[Hereditary persistence of alpha-fetoprotein], 615970 (3)
AGA Aspartylglucosaminuria, 208400 (3)
ALB Analbuminemia, 616000 (3)
[Dysalbuminemic hyperthyroxinemia], 615999 (3)
AMBN Amelogenesis imperfecta, type IF, 616270 (3)
AMTN ?Amelogenesis imperfecta, type IIIB, 617607 (3)
ANTXR2 Hyaline fibromatosis syndrome, 228600 (3)
ANXA5 {Pregnancy loss, recurrent, susceptibility to, 3}, 614391 (3)
BBS12 Bardet-Biedl syndrome 12, 615989 (3)
CFI {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
{Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
Complement factor I deficiency, 610984 (3)
COL25A1 Fibrosis of extraocular muscles, congenital, 5, 616219 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
CORIN Preeclampsia/eclampsia 5, 614595 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
DMP1 Hypophosphatemic rickets, AR, 241520 (3)
DOK7 ?Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 10, 254300 (3)
DRD5 {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)
{Blepharospasm, primary benign}, 606798 (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)
ENAM Amelogenesis imperfecta, type IB, 104500 (3)
Amelogenesis imperfecta, type IC, 204650 (3)
ETFDH Glutaric acidemia IIC, 231680 (3)
EVC Ellis-van Creveld syndrome, 225500 (3)
?Weyers acrofacial dysostosis, 193530 (3)
EVC2 Ellis-van Creveld syndrome, 225500 (3)
Weyers acrofacial dysostosis, 193530 (3)
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Van Maldergem syndrome 2, 615546 (3)
FGB Afibrinogenemia, congenital, 202400 (3)
Hypofibrinogenemia, congenital, 202400 (3)
Dysfibrinogenemia, congenital, 616004 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FRAS1 Fraser syndrome 1, 219000 (3)
GABRB1 Epileptic encephalopathy, early infantile, 45, 617153 (3)
GLRB Hyperekplexia 2, 614619 (3)
GRID2 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)
GRXCR1 Deafness, autosomal recessive 25, 613285 (3)
GUCY1A3 Moyamoya 6 with achalasia, 615750 (3)
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)
IL21 ?Immunodeficiency, common variable, 11, 615767 (3)
INTU ?Orofaciodigital syndrome XVII, 617926 (3)
?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3)
KDR {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
Hemangioma, capillary infantile, somatic, 602089 (3)
KIAA1109 Alkuraya-Kucinskas syndrome, 617822 (3)
KLKB1 Fletcher factor (prekallikrein) deficiency, 612423 (3)
LARP7 Alazami syndrome, 615071 (3)
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
MANBA Mannosidosis, beta, 248510 (3)
MTTP Abetalipoproteinemia, 200100 (3)
{Metabolic syndrome, protection against}, 605552 (3)
MUC7 {Asthma, protection against}, 600807 (3)
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3)
NFKB1 Immunodeficiency, common variable, 12, 616576 (3)
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
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)
PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)
PRDM8 ?Epilepsy, progressive myoclonic, 10, 616640 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
RBPJ Adams-Oliver syndrome 3, 614814 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SEC24D Cole-Carpenter syndrome 2, 616294 (3)
SEPSECS Pontocerebellar hypoplasia type 2D, 613811 (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)
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
Basan syndrome, 129200 (3)
Huriez syndrome, 181600 (3)
SOD3 [Superoxide dismutase, elevated extracellular] (3)
SRP72 Bone marrow failure syndrome 1, 614675 (3)
TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)
TEC Transient erythroblastopenia of childhood (2)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TET2 Myelodysplastic syndrome, somatic, 614286 (3)
TLL1 Atrial septal defect 6, 613087 (3)
TLR1 {Leprosy, protection against}, 613223 (3)
{Leprosy, susceptibility to, 5}, 613223 (3)
TLR2 {Leprosy, susceptibility to}, 246300 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TRAPPC11 Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (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)
WDFY3 ?Microcephaly 18, primary, autosomal dominant, 617520 (3)
WDR19 Nephronophthisis 13, 614377 (3)
?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Senior-Loken syndrome 8, 616307 (3)
WFS1 Deafness, autosomal dominant 6/14/38, 600965 (3)
?Cataract 41, 116400 (3)
Wolfram syndrome 1, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)

Genes at Clinical Genomics Database

AFP, AGA, ALB, AMBN, ANTXR2, BBS12, CFI, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DSPP, EDNRA, EGF, ENAM, ETFDH, EVC, EVC2, FAT4, FGB, FGFR3, FRAS1, GLRB, GRID2, GRXCR1, GUCY1A3, HADH, HPGD, HTT, IDUA, IL21, KLKB1, LARP7, LRIT3, LRPAP1, MANBA, MTTP, NEK1, NFKB1, NKX3-2, NR3C2, PDE6B, PDGFRA, PLK4, PRDM5, PRDM8, PRIMPOL, PRSS12, RBPJ, SEPSECS, SH3BP2, SLC2A9, SLC34A2, SLC4A4, SMARCAD1, SRP72, TENM3, TLL1, TLR3, TRAPPC11, TRIM2, TRPC3, UVSSA, VEGFC, WDR19, WFS1,
AFP AFP deficiency, congenital
Hereditary persistence of AFP
AGA Aspartylglucosaminuria
ALB Dysalbuminemic hyperthyroxinemia
Analbuminemia
AMBN Amelogenesis imperfecta type IF
ANTXR2 Hyalinosis, infantile systemic
Fibromatosis, juveline hyaline
BBS12 Bardet-Biedl syndrome 12
CFI Hemolytic uremic syndrome, atypical
Complement factor I deficiency
COL25A1 Fibrosis of extraocular muscles, congenital 5
COQ2 Coenzyme Q10 deficiency 1
CORIN Preeclampsia/eclampsia 5
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
DMP1 Hypophosphatemic rickets, autosomal recessive 1
DOK7 Myasthenic syndrome, congenital 10
DSPP Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
EDNRA Mandibulofacial dysostosis with alopecia
EGF Hypomagnesemia 4, renal
ENAM Amelogenesis imperfecta, type IB
Amelogenesis imperfecta, type IC
ETFDH Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
EVC Ellis-van Creveld syndrome
Weyers acrofacial dysostosis
EVC2 Ellis-van Creveld syndrome
Weyers acrodental dysostosis
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2
FGB Afibrinogenemia, congenital
Dysfibrinogenemia, congenital
Hypodysfibrinogenemia, congenital
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
FRAS1 Fraser syndrome
GLRB Hyperekplexia 2
GRID2 Spinocerebellar ataxia, autosomal recessive 18
GRXCR1 Deafness, autosomal recessive 25
GUCY1A3 Moyamoya disease 6 with achalasia
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
HPGD Hypertrophic osteoarthropathy, primary, autosomal recessive 1
Cranioosteoarthropathy
Digital clubbing, isolated congenital
HTT Huntington disease
IDUA Mucopolysaccharidosis type I
IL21 Immunodeficiency, common variable, 11
KLKB1 Prekallikrein deficiency
LARP7 Alazami syndrome
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive
LRPAP1 Myopia 23, autosomal recessive
MANBA Mannosidosis, beta A, lysosomal
MTTP Abetalipoproteinemia
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly
NFKB1 Immunodeficiency, common variable, 12
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia
NR3C2 Pseudohypoaldosteronism type I, autosomal dominant
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
PDE6B Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa 40
PDGFRA Gastrointestinal stromal tumor
PLK4 Microcephaly and chorioretinopathy, autosomal recessive 2
PRDM5 Brittle cornea syndrome 2
PRDM8 Epilepsy, progressive myoclonic, 10
PRIMPOL Myopia 22, autosomal dominant
PRSS12 Mental retardation, autosomal recessive 1
RBPJ Adams-Oliver syndrome 3
SEPSECS Pontocerebellar hypoplasia, type 2D
SH3BP2 Cherubism
SLC2A9 Hypouricemia, renal, 2
SLC34A2 Pulmonary alveolar microlithiasis
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
SMARCAD1 Adermatoglyphia
SRP72 Bone marrow failure syndrome 1
TENM3 Microphthalmia, isolated, with coloboma 9
TLL1 Atrial septal defect 6
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TRAPPC11 Limb-girdle muscular dystrophy, type 2S
TRIM2 Charcot-Marie-Tooth disease, axonal, type 2R
TRPC3 Spinocerebellar ataxia 41
UVSSA UV-sensitive syndrome 3
VEGFC Lymphedema, hereditary, ID
WDR19 Short-rib thoracic dysplasia 5 with or without polydactyly
Cranioectodermal dysplasia 4
Nephronophthisis 13
Retinitis pigmentosa
Senior-Loken syndrome 8
WFS1 Wolfram syndrome

Genes at HGMD

Summary

Number of Variants: 1447
Number of Genes: 341

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 fam3 AWJ 4 rs3796544
dbSNP Clinvar
57215677 201.61 G A PASS 0/1 78 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 fam3 AWJ 4 rs148777026
dbSNP Clinvar
57220269 19.75 A C PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00 0.73 None None None None None None AASDH|0.054593955|61.31%
View fam3 AWJ 4 rs6554354
dbSNP Clinvar
57237683 138.8 G A PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.27796 0.27800 0.38044 None None None None None None AASDH|0.054593955|61.31%
View fam3 AWJ 4 rs6554348
dbSNP Clinvar
57219592 401.89 G A PASS 1/1 43 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 fam3 AWJ 4 rs2385904
dbSNP Clinvar
8031471 1666.36 A G PASS 1/1 175 SYNONYMOUS_CODING LOW None 0.73363 0.73360 0.24947 None None None None None None ABLIM2|0.046835245|63.64%

ACOX3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs28627156
dbSNP Clinvar
8394094 322.76 G A PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.12260 0.12260 0.14240 None None None None None None ACOX3|0.00758026|82.99%
View fam3 AWJ 4 rs13434465
dbSNP Clinvar
8390948 214.44 C T PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.03934 0.03934 0.04467 0.34 0.00 None None None None None None ACOX3|0.00758026|82.99%

ACSL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2292898
dbSNP Clinvar
185686032 722.22 C T PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.83147 0.83150 0.25442 None None None None None None ACSL1|0.105455707|50.16%
View fam3 AWJ 4 rs11727009
dbSNP Clinvar
185687863 2249.8 A G PASS 0/1 207 SYNONYMOUS_CODING LOW None 0.21486 0.21490 0.23089 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 fam3 AWJ 4 rs788908
dbSNP Clinvar
73414286 1174.28 C T PASS 1/1 124 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%

ADD1

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 fam3 AWJ 4 rs4963
dbSNP Clinvar
2916762 386.95 C G PASS 0/1 178 NON_SYNONYMOUS_CODING MODERATE None 0.23782 0.23780 0.18138 0.18 0.77 None None None None None None ADD1|0.123826838|46.84%

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 fam3 AWJ 4 rs1229984
dbSNP Clinvar
100239319 459.51 T C PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.84145 0.84150 0.03652 0.65 0.00 None None None None None None ADH1B|0.074839204|56.32%
View fam3 AWJ 4 rs1229983
dbSNP Clinvar
100240002 314.11 T C PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.03435 0.03435 0.03875 None None None None None None ADH1B|0.074839204|56.32%
View fam3 AWJ 4 rs1789882
dbSNP Clinvar
100235053 2254.25 A G PASS 1/1 280 SYNONYMOUS_CODING LOW None 0.82967 0.82970 0.19151 None None None None None None ADH1B|0.074839204|56.32%
View fam3 AWJ 4 rs2018417
dbSNP Clinvar
100235140 281.93 C A PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.01897 0.01897 0.02299 None None None None None None ADH1B|0.074839204|56.32%

ADH1C

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 fam3 AWJ 4 rs1693425
dbSNP Clinvar
100266112 639.73 C T PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.21446 0.21450 0.30617 None None None None None None None
View fam3 AWJ 4 rs698
dbSNP Clinvar
100260789 278.86 T C PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.21426 0.21430 0.30751 0.00 None None None None None None None
View fam3 AWJ 4 rs1789915
dbSNP Clinvar
100266371 310.22 A G PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.15016 0.15020 0.23396 None None None None None None None
View fam3 AWJ 4 rs283413
dbSNP Clinvar
100268190 1744.27 A C PASS 1/1 166 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

ADH4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs1126670
dbSNP Clinvar
100052733 582.8 C A PASS 0/1 263 SYNONYMOUS_CODING LOW None 0.84724 0.84720 0.26872 None None None None None None ADH4|0.01057839|80.46%
View fam3 AWJ 4 rs2032349
dbSNP Clinvar
100062819 320.36 A G PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.96406 0.96410 0.04121 None None None None None None ADH4|0.01057839|80.46%
View fam3 AWJ 4 rs1126671
dbSNP Clinvar
100048414 149.57 T C PASS 0/1 32 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 fam3 AWJ 4 rs1126673
dbSNP Clinvar
100045616 188.99 C T PASS 0/1 75 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.84724 0.84720 0.26992 1.00 0.00 None None None None None None ADH4|0.01057839|80.46%

ADH6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs4699735
dbSNP Clinvar
100140306 525.93 A T PASS 1/1 52 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 fam3 AWJ 4 rs41264705
dbSNP Clinvar
7780582 95.93 C T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.11062 0.11060 0.21667 0.13 0.02 None None None None None None AFAP1|0.028735408|70.06%
View fam3 AWJ 4 rs61742221
dbSNP Clinvar
7857230 441.52 C T PASS 0/1 156 SYNONYMOUS_CODING LOW None 0.17812 0.17810 0.32301 None None None None None None AFAP1|0.028735408|70.06%
View fam3 AWJ 4 rs11728778
dbSNP Clinvar
7802292 287.14 G A PASS 0/1 168 SYNONYMOUS_CODING LOW None 0.11162 0.11160 0.21936 None None None None None None AFAP1|0.028735408|70.06%
View fam3 AWJ 4 rs77207711
dbSNP Clinvar
7783172 139.72 G A PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.15216 0.15220 0.14761 None None None None None None AFAP1|0.028735408|70.06%
View fam3 AWJ 4 rs28542374
dbSNP Clinvar
7783163 149.99 G A PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.62540 0.62540 0.40035 None None None None None None AFAP1|0.028735408|70.06%

AFF1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs139239111
dbSNP Clinvar
88047314 265.2 G A PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.00379 0.00379 0.00854 None None None None None None AFF1|0.048316691|63.19%

AFP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs41265657
dbSNP Clinvar
74310768 84.01 C G PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.01458 0.01458 0.01638 0.06 0.92 None None None None None None AFP|0.580248443|12.58%
View fam3 AWJ 4 rs4235117
dbSNP Clinvar
74318330 1093.26 A G PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.97704 0.97700 0.02007 None None None None None None AFP|0.580248443|12.58%

AGA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2228119
dbSNP Clinvar
178359960 1268.48 G C PASS 1/1 134 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%

AGPAT9

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 fam3 AWJ 4 rs62303973
dbSNP Clinvar
84519828 95.77 G A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.02077 0.02077 0.04367 0.00 0.67 None None None None None None AGPAT9|0.191668559|37.64%

ALB

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs962004
dbSNP Clinvar
74285239 120.94 C T PASS 0/1 22 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 fam3 AWJ 4 rs6533616
dbSNP Clinvar
113345147 79.98 A G PASS 0/1 54 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%
View fam3 AWJ 4 rs231247
dbSNP Clinvar
113359703 203.19 A G PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.66134 0.66130 0.32001 None None None None None None ALPK1|0.013394495|78.25%

AMBN

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 fam3 AWJ 4 rs7680880
dbSNP Clinvar
71472426 120.23 A G PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.27576 0.27580 0.23460 None None None None None None AMBN|0.073571485|56.63%

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 fam3 AWJ 4 rs35286445
dbSNP Clinvar
71384537 143.23 C T PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.11402 0.11400 0.10280 0.01 0.41 None None None None None None AMTN|0.018262621|75.13%
View fam3 AWJ 4 rs7660807
dbSNP Clinvar
71388551 495.94 A G PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.10423 0.10420 0.06097 0.29 0.01 None None None None None None AMTN|0.018262621|75.13%

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 fam3 AWJ 4 rs6855349
dbSNP Clinvar
73956736 406.83 G A PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.35184 0.35180 0.36921 None None None None None None ANKRD17|0.584903468|12.36%
View fam3 AWJ 4 rs6822576
dbSNP Clinvar
73991006 882.25 T C PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.99740 0.99740 0.00369 None None None None None None ANKRD17|0.584903468|12.36%
View fam3 AWJ 4 rs35591466
dbSNP Clinvar
74017201 196.28 C T PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.00399 0.00399 0.01076 None None None None None None ANKRD17|0.584903468|12.36%

ANKRD50

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 fam3 AWJ 4 rs10018651
dbSNP Clinvar
125592065 62.54 C A PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.28674 0.28670 0.25896 None None None None None None ANKRD50|0.112901516|48.67%
View fam3 AWJ 4 rs3733471
dbSNP Clinvar
125591687 278.78 A G PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.28734 0.28730 0.25942 None None None None None None ANKRD50|0.112901516|48.67%
View fam3 AWJ 4 rs3733472
dbSNP Clinvar
125592440 230.11 T C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.04273 0.04273 0.05482 None None None None None None ANKRD50|0.112901516|48.67%

ANTXR2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs12647691
dbSNP Clinvar
80905990 458.7 C G PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.80272 0.80270 0.28982 1.00 0.00 None None None None None None ANTXR2|0.866348045|4.33%

ANXA10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs4405979
dbSNP Clinvar
169086441 978.96 A G PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.37204 None None None None None None ANXA10|0.100130698|51.14%
View fam3 AWJ 4 rs477897
dbSNP Clinvar
169098914 146.42 A G PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.11482 0.11480 0.17861 None None None None None None ANXA10|0.100130698|51.14%
View fam3 AWJ 4 rs6836994
dbSNP Clinvar
169083694 621.97 A C PASS 1/1 75 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%

ANXA5

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 fam3 AWJ 4 rs17851665
dbSNP Clinvar
122590824 242.17 A G PASS 0/1 93 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00180 0.00180 0.00162 0.08 0.01 None None None None None None ANXA5|0.657247591|9.82%
View fam3 AWJ 4 rs150126476
dbSNP Clinvar
122591118 25.44 A G PASS 0/1 22 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00080 0.00080 0.00292 None None None None None None ANXA5|0.657247591|9.82%

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 fam3 AWJ 4 rs4861358
dbSNP Clinvar
41015899 1523.81 C T PASS 1/1 135 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 fam3 AWJ 4 rs4833069
dbSNP Clinvar
36081878 604.09 C T PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.99521 0.99520 0.00746 0.80 0.00 None None None None None None ARAP2|0.117132933|47.92%
View fam3 AWJ 4 rs7657166
dbSNP Clinvar
36069805 271.96 G A PASS 0/1 165 SYNONYMOUS_CODING LOW None 0.15535 0.15540 0.23674 None None None None None None ARAP2|0.117132933|47.92%

ARHGAP24

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 fam3 AWJ 4 rs11547776
dbSNP Clinvar
86915923 197.3 G A PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.25459 0.25460 0.19476 None None None None None None ARHGAP24|0.256470392|31.01%
View fam3 AWJ 4 rs10003909
dbSNP Clinvar
86915848 223.91 T C PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.35443 0.35440 0.29909 None None None None None None ARHGAP24|0.256470392|31.01%
View fam3 AWJ 4 rs6824722
dbSNP Clinvar
86844835 470.08 A G PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.39637 0.39640 0.31655 None None None None None None ARHGAP24|0.256470392|31.01%

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 fam3 AWJ 4 rs6533206
dbSNP Clinvar
106474096 760.76 T C PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.99980 0.99980 None None None None None None ARHGEF38|0.075305724|56.22%

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 fam3 AWJ 4 rs6848883
dbSNP Clinvar
156787340 855.55 G A PASS 1/1 92 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 fam3 AWJ 4 rs1058793
dbSNP Clinvar
47584046 278.11 G A PASS 0/1 128 NON_SYNONYMOUS_CODING MODERATE None 0.29952 0.29950 0.20760 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 fam3 AWJ 4 rs3733197
dbSNP Clinvar
102839287 848.67 G A PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.22684 0.22680 0.29722 0.05 0.07 None None None None None None BANK1|0.027814487|70.51%
View fam3 AWJ 4 rs10516487
dbSNP Clinvar
102751076 1630.69 G A PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.21845 0.21850 0.28333 0.17 0.00 None None None None None None BANK1|0.027814487|70.51%
View fam3 AWJ 4 rs10516486
dbSNP Clinvar
102751276 906.74 C T PASS 1/1 95 SYNONYMOUS_CODING LOW None 0.54034 0.54030 0.48862 None None None None None None BANK1|0.027814487|70.51%
View fam3 AWJ 4 rs3113676
dbSNP Clinvar
102965043 977.8 T C PASS 1/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00938 0.40 0.00 None None None None None None BANK1|0.027814487|70.51%

BBS12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs13102440
dbSNP Clinvar
123664919 283.16 A G PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.09185 0.09185 0.17138 None None None None None None BBS12|0.010536417|80.48%
View fam3 AWJ 4 rs13135778
dbSNP Clinvar
123664446 245.32 G A PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.09265 0.09265 0.17261 0.50 0.00 None None None None None None BBS12|0.010536417|80.48%
View fam3 AWJ 4 rs13135445
dbSNP Clinvar
123664457 245.32 C T PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.12101 0.12100 0.20814 None None None None None None BBS12|0.010536417|80.48%
View fam3 AWJ 4 rs309370
dbSNP Clinvar
123664204 1668.61 G A PASS 1/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.50639 0.50640 0.41381 0.35 0.00 None None None None None None BBS12|0.010536417|80.48%
View fam3 AWJ 4 rs2292493
dbSNP Clinvar
123664445 263.93 C T PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.30052 0.30050 0.10664 None None None None None None BBS12|0.010536417|80.48%
View fam3 AWJ 4 rs13135766
dbSNP Clinvar
123664427 233.85 G C PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.09465 0.09465 0.17492 None None None None None None BBS12|0.010536417|80.48%

BDH2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs79460377
dbSNP Clinvar
104004064 80.99 T C PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.02256 0.02256 0.05251 None None None None None None SLC9B2|0.023717842|72.32%,BDH2|0.077160545|55.86%

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 fam3 AWJ 4 rs6831040
dbSNP Clinvar
81967188 989.31 C T PASS 1/1 99 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%

C4orf17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs17029087
dbSNP Clinvar
100443800 1029.12 G A PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.20607 0.20610 0.24919 0.07 0.19 None None None None None None C4orf17|0.007285279|83.23%
View fam3 AWJ 4 rs61732380
dbSNP Clinvar
100443784 1058.75 C G PASS 1/1 114 SYNONYMOUS_CODING LOW None 0.21106 0.21110 0.02122 None None None None None None C4orf17|0.007285279|83.23%
View fam3 AWJ 4 rs13119384
dbSNP Clinvar
100443782 1088.7 T C PASS 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.57528 0.57530 0.40827 1.00 0.00 None None None None None None C4orf17|0.007285279|83.23%
View fam3 AWJ 4 rs13143848
dbSNP Clinvar
100443720 1129.56 G A PASS 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.31430 0.31430 0.31739 0.37 0.08 None None None None None None C4orf17|0.007285279|83.23%

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 fam3 AWJ 4 rs2973275
dbSNP Clinvar
37592128 221.99 G A PASS 0/1 107 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 fam3 AWJ 4 rs7696816
dbSNP Clinvar
113539969 292.03 T C PASS 0/1 46 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 fam3 AWJ 4 rs1052325
dbSNP Clinvar
81884722 942.52 G A PASS 1/1 102 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 fam3 AWJ 4 rs2867782
dbSNP Clinvar
81529518 1427.92 T C PASS 1/1 150 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 fam3 AWJ 4 rs11540095
dbSNP Clinvar
170678993 1444.51 T C PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.77736 0.77740 0.22341 None None None None None None C4orf27|0.233972721|33.01%

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 fam3 AWJ 4 rs337277
dbSNP Clinvar
130030652 388.32 A G PASS 0/1 40 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs1550931
dbSNP Clinvar
87809387 796.92 G T PASS 1/1 84 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%

C4orf45

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs619128
dbSNP Clinvar
159894250 243.17 C T PASS 1/1 20 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%
View fam3 AWJ 4 . 159894304 689.23 CT C,CC PASS 1/2 59 FRAME_SHIFT HIGH None None None None None None None C4orf45|0.003496909|87.79%

C4orf47

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 fam3 AWJ 4 rs74560263
dbSNP Clinvar
186366181 402.46 G A PASS 0/1 162 NON_SYNONYMOUS_CODING MODERATE None 0.06969 0.06969 0.07556 0.72 0.00 None None None None None None C4orf47|0.083960576|54.44%

CABS1

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 fam3 AWJ 4 rs1351419
dbSNP Clinvar
71201388 1739.41 C T PASS 1/1 153 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%

CBR4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs2877380
dbSNP Clinvar
169928842 534.16 G T PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.72005 0.72000 0.33264 0.22 0.01 None None None None None None CBR4|0.148986414|43.14%

CCDC109B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs13846
dbSNP Clinvar
110605744 417.55 A T PASS 0/1 183 NON_SYNONYMOUS_CODING MODERATE None 0.23622 0.23620 0.22805 0.06 0.56 None None None None None None CCDC109B|0.014014782|77.87%
View fam3 AWJ 4 rs3733611
dbSNP Clinvar
110603784 99.26 T C PASS 1/1 10 SYNONYMOUS_CODING LOW None 0.69429 0.69430 0.28402 None None None None None None CCDC109B|0.014014782|77.87%

CCDC110

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs7698680
dbSNP Clinvar
186380846 568.24 A T PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.38558 0.38560 0.48685 0.64 0.03 None None None None None None CCDC110|0.025241211|71.69%
View fam3 AWJ 4 rs7687202
dbSNP Clinvar
186379371 497.85 G A PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.97744 0.97740 0.02553 None None None None None None CCDC110|0.025241211|71.69%
View fam3 AWJ 4 rs11132306
dbSNP Clinvar
186380515 797.21 G A PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.38439 0.38440 0.48508 0.88 0.00 None None None None None None CCDC110|0.025241211|71.69%
View fam3 AWJ 4 rs36007437
dbSNP Clinvar
186380295 22.51 A G PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.29493 0.29490 0.39827 None None None None None None CCDC110|0.025241211|71.69%
View fam3 AWJ 4 rs7699724
dbSNP Clinvar
186381165 459.54 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.38558 0.38560 0.48546 None None None None None None CCDC110|0.025241211|71.69%
View fam3 AWJ 4 rs59319722
dbSNP Clinvar
186380243 158.83 A C PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.38478 0.38480 0.48309 1.00 0.00 None None None None None None CCDC110|0.025241211|71.69%
View fam3 AWJ 4 rs35596415
dbSNP Clinvar
186379899 735.99 G C PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.38439 0.38440 0.48545 1.00 0.01 None None None None None None CCDC110|0.025241211|71.69%
View fam3 AWJ 4 rs7699687
dbSNP Clinvar
186381115 724.23 G T PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.38558 0.38560 0.48492 1.00 0.00 None None None None None None CCDC110|0.025241211|71.69%

CCDC158

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fam3 AWJ 4 rs17001890
dbSNP Clinvar
77305346 279.78 A G PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.22684 0.22680 0.26627 None None None None None None CCDC158|0.159387055|41.66%