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+ Genes 341

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 associated with diseases 90

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

SRP72
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 rs34419325
dbSNP Clinvar 		57361553 914.44 A G PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.11641 0.11640 0.06474 None None None None None None SRP72|0.630816221|10.74%
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 rs17086898
dbSNP Clinvar 		57357822 471.98 A G PASS 0/1 83 None None None 0.17193 0.17190 None None None None None None SRP72|0.630816221|10.74%

FRAS1
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 rs345513
dbSNP Clinvar 		79240063 1074.21 A G PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.43431 0.43430 0.41140 0.00 None None None None None None FRAS1|0.159366605|41.67%

RPL9
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 rs2125313
dbSNP Clinvar 		39458051 1012.54 A G PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.69289 0.69290 0.35038 None None None None None None RPL9|0.545854423|13.95%

RBM47
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 rs2307046
dbSNP Clinvar 		40438576 2000.07 A G PASS 1/1 205 SYNONYMOUS_CODING LOW None 0.80511 0.80510 0.16318 None None None None None None RBM47|0.350225343|24.09%

AASDH
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 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%
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 rs3733324
dbSNP Clinvar 		57204960 1651.95 A G PASS 0/1 216 None None None 0.10623 0.10620 0.05874 None None None None None None AASDH|0.054593955|61.31%

GABRB1
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 rs6289
dbSNP Clinvar 		47408709 1769.15 A G PASS 1/1 151 SYNONYMOUS_CODING LOW None 0.20986 0.20990 0.31216 None None None None None None GABRB1|0.572974725|12.87%
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 fam3 AWJ 4 rs6554344
dbSNP Clinvar 		57179649 615.95 A T PASS 1/1 65 None None None 0.82149 0.82150 None None None None None None KIAA1211|0.006705951|83.84%
View fam3 AWJ 4 rs2412617
dbSNP Clinvar 		55948108 786.47 A G PASS 1/1 72 None None None 0.99681 0.99680 0.00238 None None None None None None KDR|0.951226696|2.22%

SLC30A9
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 fam3 AWJ 4 rs2581423
dbSNP Clinvar 		42020142 423.69 A G PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.97943 0.97940 0.02410 1.00 0.00 None None None None None None SLC30A9|0.494428904|16.11%
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 rs4421048
dbSNP Clinvar 		55946081 1409.47 A G PASS 1/1 115 None None None 0.99281 0.99280 0.00800 None None None None None None KDR|0.951226696|2.22%

NAAA
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 rs6823734
dbSNP Clinvar 		76836137 483.96 A G PASS 0/1 87 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.74441 0.74440 0.22957 0.64 0.00 None None None None None None NAAA|0.026977038|70.9%
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 rs2276948
dbSNP Clinvar 		55156400 796.93 A G PASS 1/1 84 None None None 0.70028 0.70030 None None None None None None FIP1L1|0.803179019|5.74%,PDGFRA|0.732814816|7.55%
View fam3 AWJ 4 rs10033628
dbSNP Clinvar 		42618138 83.61 A G PASS 0/1 33 None None None 0.17272 0.17270 0.23204 None None None None None None ATP8A1|0.439676223|18.67%

PPEF2
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 rs7691755
dbSNP Clinvar 		76809386 1240.27 A G PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.99501 0.99500 0.00477 None None None None None None PPEF2|0.035340867|67.37%
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 fam3 AWJ 4 rs10213360
dbSNP Clinvar 		42965159 1049.53 A C PASS 1/1 98 None None None 0.85503 0.85500 0.17482 None None None None None None GRXCR1|0.227142319|33.66%

YIPF7
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 rs60959366
dbSNP Clinvar 		44626641 568.24 A G PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.55192 0.55190 0.44709 None None None None None None YIPF7|0.058648269|60.23%
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 rs6813809
dbSNP Clinvar 		44631587 481.19 A G PASS 1/1 53 None None None 0.46765 0.46770 0.37227 None None None None None None YIPF7|0.058648269|60.23%

PDGFRA
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 rs1873778
dbSNP Clinvar 		55141055 1108.9 A G PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.95767 0.95770 0.04114 None None None None None None FIP1L1|0.803179019|5.74%,PDGFRA|0.732814816|7.55%
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 rs4074
dbSNP Clinvar 		74736144 341.03 A G PASS 0/1 93 None None None 0.40435 0.40440 None None None None None None CXCL1|0.023108688|72.63%
View fam3 AWJ 4 rs2306993
dbSNP Clinvar 		44684438 71.87 A G PASS 0/1 17 None None None 0.09345 0.09345 0.06592 None None None None None None GUF1|0.36534877|23.03%,GNPDA2|0.439714436|18.67%

CXCL1
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 rs2071425
dbSNP Clinvar 		74735244 349.89 A G PASS 0/1 113 SYNONYMOUS_CODING LOW None 0.37800 0.37800 0.25590 None None None None None None CXCL1|0.023108688|72.63%

CCDC158
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 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%
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 fam3 AWJ 4 rs138908403
dbSNP Clinvar 		44696289 159.78 A G PASS 0/1 47 None None None 0.00200 0.00200 None None None None None None GUF1|0.36534877|23.03%,GNPDA2|0.439714436|18.67%
View fam3 AWJ 4 rs11736008
dbSNP Clinvar 		46736853 300.3 A T PASS 0/1 96 None None None None None None None None None COX7B2|0.005633817|85.06%
View fam3 AWJ 4 rs3765158
dbSNP Clinvar 		54327584 652.02 A G PASS 0/1 76 None None None 0.68371 0.68370 0.29752 None None None None None None FIP1L1|0.803179019|5.74%,LNX1|0.072223402|56.95%
View fam3 AWJ 4 rs11722866
dbSNP Clinvar 		54310188 1103.39 A G PASS 0/1 90 None None None 0.45767 0.45770 0.43656 None None None None None None FIP1L1|0.803179019|5.74%
View fam3 AWJ 4 rs10000598
dbSNP Clinvar 		69810923 1035.48 A C PASS 1/1 110 None None None 0.02915 0.64700 None None None None None None UGT2A3|0.001694457|91.92%

SCFD2
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 rs7675987
dbSNP Clinvar 		54011526 965.92 A G PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.25280 0.25280 0.31555 0.19 0.95 None None None None None None SCFD2|0.103044891|50.59%
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 fam3 AWJ 4 rs2351791
dbSNP Clinvar 		47582387 531.51 A C PASS 1/1 31 None None None 0.74161 0.74160 0.23981 None None None None None None ATP10D|0.06998296|57.49%
View fam3 AWJ 4 rs225170
dbSNP Clinvar 		52896050 341.31 A G PASS 0/1 144 None None None 0.35563 0.35560 0.43480 None None None None None None SGCB|0.101584754|50.84%
View fam3 AWJ 4 rs3845160
dbSNP Clinvar 		47953515 294.76 A T PASS 0/1 139 None None None 0.88099 0.88100 0.16106 None None None None None None NIPAL1|0.065350151|58.53%,CNGA1|0.095013818|52.11%

RASSF6
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 rs12507775
dbSNP Clinvar 		74451073 363.3 A G PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.26338 0.26340 0.28307 0.22 0.01 None None None None None None RASSF6|0.071491999|57.09%
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 rs11096989,rs397786375
dbSNP Clinvar 		39276623 1160.77 A AG PASS 1/1 126 None None None 0.49082 0.49080 0.47695 None None None None None None WDR19|0.167993479|40.57%
View fam3 AWJ 4 rs2066790
dbSNP Clinvar 		39318706 243.16 A G PASS 1/1 24 None None None 0.28115 0.28120 None None None None None None RFC1|0.459631964|17.7%
View fam3 AWJ 4 rs11734944
dbSNP Clinvar 		75681217 235.39 A G PASS 0/1 88 None None None 0.43131 0.43130 0.37506 None None None None None None BTC|0.03501421|67.46%

CORIN
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 rs10517195
dbSNP Clinvar 		47682174 869.83 A G PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.37101 0.37100 0.49439 None None None None None None CORIN|0.070281141|57.43%

PRIMPOL
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 rs2463447
dbSNP Clinvar 		185587165 1205.42 A G PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.96685 0.96690 0.04075 0.00 None None None None None None PRIMPOL|0.045367641|64.11%

BBS12
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 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%
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 rs2008288
dbSNP Clinvar 		74447800 94.16 A G PASS 0/1 27 None None None 0.26338 0.26340 None None None None None None RASSF6|0.071491999|57.09%
View fam3 AWJ 4 rs1247671
dbSNP Clinvar 		74447510 92.24 A C PASS 0/1 44 None None None 0.76797 0.76800 0.25458 None None None None None None RASSF6|0.071491999|57.09%
View fam3 AWJ 4 rs11733262
dbSNP Clinvar 		74357851 107.27 A G PASS 0/1 60 None None None 0.55192 0.55190 0.39029 None None None None None None AFM|0.006233548|84.36%

AFP
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 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%

LARP1B
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 rs1064205
dbSNP Clinvar 		129012638 638.63 A G PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.63798 0.63800 0.34769 None None None None None None LARP1B|0.099185748|51.34%
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 rs7691712
dbSNP Clinvar 		76809319 1170.84 A G PASS 1/1 91 None None None 0.87280 0.87280 0.13478 None None None None None None PPEF2|0.035340867|67.37%
View fam3 AWJ 4 rs17220803
dbSNP Clinvar 		76805745 368.06 A G PASS 0/1 142 None None None 0.01837 0.01837 0.03191 None None None None None None PPEF2|0.035340867|67.37%

AMBN
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 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%

PROL1
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 rs61336549
dbSNP Clinvar 		71275387 344.26 A G PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.11242 0.11240 0.06335 None None None None None None PROL1|0.00032461|99.33%
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 rs1844635
dbSNP Clinvar 		71265172 1056.55 A C PASS 1/1 116 None None None 0.51597 0.51600 None None None None None None PROL1|0.00032461|99.33%
View fam3 AWJ 4 rs7666135
dbSNP Clinvar 		76805692 1418.3 A G PASS 1/1 132 None None None 0.86222 0.86220 None None None None None None PPEF2|0.035340867|67.37%

WFS1
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 rs1046316
dbSNP Clinvar 		6304087 1922.82 A G PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.77995 0.78000 0.28825 None None None None None None WFS1|0.225742755|33.79%
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 fam3 AWJ 4 rs1826690
dbSNP Clinvar 		70352266 138.39 A G PASS 0/1 69 None None None 0.26178 0.26180 None None None None None None UGT2B4|0.002386723|89.92%
View fam3 AWJ 4 rs41297427,rs71205981
dbSNP Clinvar 		70352164 81.71 A AA... PASS 0/1 56 None None None 0.60783 0.60780 None None None None None None UGT2B4|0.002386723|89.92%
View fam3 AWJ 4 rs77084305
dbSNP Clinvar 		190881997 31.88 A G PASS 0/1 8 None None None None None None None None None FRG1|0.098149242|51.5%

PRDM5
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 rs12499000
dbSNP Clinvar 		121706201 723.22 A G PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.13738 0.13740 0.19983 None None None None None None PRDM5|0.189342478|37.9%

UGT2B28
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 rs10013145
dbSNP Clinvar 		70156392 22.63 A G PASS 0/1 53 SYNONYMOUS_CODING LOW None 0.38938 0.38940 0.40950 None None None None None None UGT2B28|0.001717991|91.81%

SLC34A2
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 rs6448389
dbSNP Clinvar 		25678199 1074.48 A G PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.91074 0.91070 0.12402 1.00 0.00 None None None None None None SLC34A2|0.026885806|70.96%

UGT2B7
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 fam3 AWJ 4 rs7438284
dbSNP Clinvar 		69964337 22.86 A T PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.66514 0.66510 0.16408 None None None None None None UGT2B7|0.005954965|84.63%
Omim - GeneCards - NCBI
Options Individual Chr
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 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 fam3 AWJ 4 rs111542944
dbSNP Clinvar 		69870721 195.14 A G PASS 0/1 166 None None None 0.22544 0.22540 0.18375 None None None None None None None
View fam3 AWJ 4 rs946346
dbSNP Clinvar 		26431386 1046.67 A G PASS 1/1 111 None None None 0.92572 0.92570 None None None None None None RBPJ|0.997809016|0.58%

TBC1D19
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 rs7691219
dbSNP Clinvar 		26673787 158.23 A G PASS 0/1 14 SYNONYMOUS_CODING LOW None 0.98103 0.98100 0.02584 None None None None None None TBC1D19|0.425267376|19.34%
Omim - GeneCards - NCBI
Options Individual Chr
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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 rs294776
dbSNP Clinvar 		69681675 953.83 A T PASS 1/1 93 None None None 0.74022 0.74020 None None None None None None None

UGT2B17
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 rs28374627
dbSNP Clinvar 		69417570 423.68 A G PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.59744 0.59740 0.43589 None None None None None None UGT2B17|0.003689216|87.45%
Omim - GeneCards - NCBI
Options Individual Chr
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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 rs4859415
dbSNP Clinvar 		76956528 161.48 A G PASS 0/1 64 None None None 0.69050 0.69050 0.40412 None None None None None None ART3|0.030297824|69.28%,CXCL11|0.037792654|66.53%

KIAA1239
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 rs73130327
dbSNP Clinvar 		37327583 420.2 A C PASS 0/1 132 SYNONYMOUS_CODING LOW None 0.10583 0.10580 0.11432 None None None None None None NWD2|0.232539002|33.16%
Omim - GeneCards - NCBI
Options Individual Chr
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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 rs4859564
dbSNP Clinvar 		76804067 1348.21 A G PASS 1/1 113 None None None 0.84445 0.84440 0.16216 None None None None None None PPEF2|0.035340867|67.37%
View fam3 AWJ 4 rs2973217
dbSNP Clinvar 		37432416 1606.31 A C PASS 1/1 170 None None None 0.44169 0.44170 0.45160 None None None None None None NWD2|0.232539002|33.16%

GC
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 rs7041
dbSNP Clinvar 		72618334 543.48 A C PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.38159 0.38160 0.42850 0.84 0.00 None None None None None None GC|0.070899488|57.25%

AMTN
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 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%
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 fam3 AWJ 4 rs1026341
dbSNP Clinvar 		69343353 238.34 A G PASS 0/1 65 None None None 0.72564 0.72560 0.36637 None None None None None None TMPRSS11E|0.044862422|64.25%
View fam3 AWJ 4 rs2603187
dbSNP Clinvar 		69340500 140.45 A G PASS 0/1 76 None None None 0.58467 0.58470 0.45616 None None None None None None TMPRSS11E|0.044862422|64.25%

YTHDC1
Omim - GeneCards - NCBI
Options Individual Chr
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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 rs10213623
dbSNP Clinvar 		69203551 825.45 A T PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.99401 0.99400 0.00777 None None None None None None YTHDC1|0.650137018|10.1%

PPEF2
Omim - GeneCards - NCBI
Options Individual Chr
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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 rs1394916
dbSNP Clinvar 		76793228 1819.04 A G PASS 1/1 189 SYNONYMOUS_CODING LOW None 0.99082 0.99080 0.00915 None None None None None None PPEF2|0.035340867|67.37%

TMPRSS11A
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 fam3 AWJ 4 rs1371932
dbSNP Clinvar 		68780399 406.71 A G PASS 0/1 121 SYNONYMOUS_CODING LOW None 0.48423 0.48420 0.49692 None None None None None None TMPRSS11A|0.035872447|67.18%
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 rs7674958
dbSNP Clinvar 		71255370 102.59 A T PASS 0/1 24 None None None 0.67452 0.67450 0.31001 1.82 0.21 0.87278 D None None None None SMR3B|0.001535813|92.6%
View fam3 AWJ 4 rs2242330
dbSNP Clinvar 		68447249 158.24 A G PASS 0/1 79 None None None 0.20767 0.20770 None None None None None None STAP1|0.104265838|50.37%

TLR10
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 rs10856838
dbSNP Clinvar 		38777173 1491.09 A T PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.33087 0.33090 0.26534 None None None None None None TLR10|0.045687596|63.98%

STAP1
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 rs11556614
dbSNP Clinvar 		68442968 893.05 A G PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.39816 0.39820 0.41489 None None None None None None STAP1|0.104265838|50.37%

USO1
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 rs324689
dbSNP Clinvar 		76730195 39.28 A G PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.08886 0.08886 0.10146 None None None None None None USO1|0.367488319|22.9%

TLR6
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 rs5743818
dbSNP Clinvar 		38829163 1099.49 A C PASS 1/1 122 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.08966 0.08966 0.20521 None None None None None None TLR1|0.255603252|31.06%,TLR6|0.030200205|69.32%
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 rs3749525
dbSNP Clinvar 		66270241 200.57 A G PASS 0/1 76 None None None 0.14557 0.14560 0.17623 None None None None None None EPHA5|0.80352652|5.73%

TLR6
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 rs5743810
dbSNP Clinvar 		38830350 1784.95 A G PASS 1/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.88478 0.88480 0.30847 0.56 0.00 None None None None None None TLR1|0.255603252|31.06%,TLR6|0.030200205|69.32%
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 rs4859573
dbSNP Clinvar 		76857395 159.84 A G PASS 0/1 47 None None None 0.21785 0.21790 0.19324 None None None None None None NAAA|0.026977038|70.9%
View fam3 AWJ 4 rs2198104
dbSNP Clinvar 		66233029 226.06 A G PASS 0/1 63 None None None 0.36002 0.36000 0.35189 None None None None None None EPHA5|0.80352652|5.73%
View fam3 AWJ 4 rs10012755
dbSNP Clinvar 		65146700 351.11 A G PASS 1/1 28 None None None 0.84864 0.84860 0.14903 None None None None None None TECRL|0.190099811|37.79%
View fam3 AWJ 4 rs56038622
dbSNP Clinvar 		62861964 239.72 A T PASS 0/1 17 None None None 0.24261 0.24260 0.22868 None None None None None None ADGRL3|0.887869356|3.75%

LPHN3
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 rs1397548
dbSNP Clinvar 		62845490 677.13 A G PASS 1/1 70 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49940 0.49940 0.35237 None None None None None None ADGRL3|0.887869356|3.75%

PARM1
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 . 75938199 419.48 A G PASS 0/1 194 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None PARM1|0.019810905|74.28%

CHRNA9
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 rs10009228
dbSNP Clinvar 		40356422 1942.14 A G PASS 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.74501 0.74500 0.23558 0.43 0.00 None None None None None None CHRNA9|0.127142482|46.31%
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 rs3755906
dbSNP Clinvar 		57906986 1043.71 A T PASS 1/1 110 None None None 0.30551 0.30550 0.35737 None None None None None None IGFBP7|0.178308209|39.24%

NOA1
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 rs4865167
dbSNP Clinvar 		57843320 700.71 A G PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.99980 0.99980 None None None None None None NOA1|0.040203469|65.71%
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 rs78189306
dbSNP Clinvar 		109769832 72.64 A G PASS 0/1 60 None None None 0.09744 0.09744 None None None None None None COL25A1|0.612068275|11.4%

ADH4
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 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%

ETNPPL
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 rs1377210
dbSNP Clinvar 		109674116 508.49 A G PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.26538 0.26540 0.15078 1.00 0.00 None None None None None None ETNPPL|0.069394752|57.63%

ALPK1
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 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%

IBSP
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 rs13144371
dbSNP Clinvar 		88732746 425.18 A G PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.74201 0.74200 0.19137 1.00 0.00 None None None None None None IBSP|0.14329613|43.95%

TET2
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 rs62621450
dbSNP Clinvar 		106197000 246.15 A G PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.07907 0.07907 0.07687 0.01 0.90 None None None None None None TET2|0.052316469|61.98%

MANBA
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 rs2272697
dbSNP Clinvar 		103555992 216.73 A G PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.54972 0.54970 0.45156 None None None None None None MANBA|0.023500464|72.43%
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 rs11723037
dbSNP Clinvar 		99850126 1693.53 A G PASS 1/1 193 None None None 0.61422 0.61420 0.45114 None None None None None None EIF4E|0.900492309|3.42%