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+ Genes 36

+ Genes associated with diseases 25

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, COL5A2, FOXE3, KRT13, KRT16, KRT3, LTBP2, MYLK, PIKFYVE, PXDN, SIX5, SLC4A11, TCF4, ZNF469,
ABCA4 Fundus flavimaculatus, 248200 (3)
{Macular degeneration, age-related, 2}, 153800 (3)
Cone-rod dystrophy 3, 604116 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)
COL12A1 Bethlem myopathy 2, 616471 (3)
?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease with or without ocular anomalies, 175780 (3)
?Retinal arteries, tortuosity of, 180000 (3)
Schizencephaly, 269160 (3)
COL4A2 {Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease 2, 614483 (3)
COL4A3 Alport syndrome 2, autosomal recessive, 203780 (3)
Alport syndrome 3, autosomal dominant, 104200 (3)
Hematuria, benign familial, 141200 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COL5A2 Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
FOXE3 Anterior segment dysgenesis 2, multiple subtypes, 610256 (3)
Cataract 34, multiple types, 612968 (3)
{Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
PIKFYVE Corneal fleck dystrophy, 121850 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, COL5A2, FOXE3, KRT13, KRT16, KRT3, LTBP2, MYLK, PIKFYVE, PXDN, SIX5, SLC4A11, TCF4, ZNF469,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
ABCC6 Pseudoxanthoma elasticum
ADAMTS18 Knobloch syndrome 2
Microcornea, myopic chorioretinal atrophy, and telecanthus
Retinal dystrophy, early onset, autosomal recessive
AGBL1 Corneal dystrophy, Fuchs endothelial, 8
BEST1 Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Brain small vessel disease with or without ocular anomalies
Anterior segment dysgenesis with cerebral involvement
Porencephaly 1
Retinal artery tortuosity
Schizencephaly
COL4A2 Hemorrhage, intracerebral, susceptibility to
COL4A3 Alport syndrome, autosomal dominant
Alport syndrome, autosomal recessive
COL4A4 Alport syndrome, autosomal recessive
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COL5A2 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
FOXE3 Aphakia, congenital primary
Anterior segment mesenchymal dysgenesis
KRT13 White sponge nevus 2
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
KRT3 Meesmann corneal dystrophy
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MYLK Aortic aneurysm, familial thoracic 7
PIKFYVE Corneal fleck dystrophy
PXDN Corneal opacification with other ocular anomalies
SIX5 Branchiootorenal syndrome 2
SLC4A11 Cryohydrocytosis
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 270
Number of Genes: 36

Export to: CSV

ABCA4
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 2632_s12 1 rs4847281
dbSNP Clinvar 		94578548 100.0 T C PASS 1/1 10 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%

ABCB5
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 2632_s12 7 rs6461515
dbSNP Clinvar 		20778646 100.0 G A PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.75679 0.75680 0.22620 0.13 0.81 None None None None None None ABCB5|0.12579132|46.5%

ABCC6
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 2632_s12 16 rs7500834
dbSNP Clinvar 		16272670 100.0 T C PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.96446 0.96450 0.03548 None None None None None None ABCC6|0.022547171|72.9%
View 2632_s12 16 rs6416668
dbSNP Clinvar 		16271357 100.0 T C PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.96426 0.96430 0.03556 0.29 0.00 None None None None None None ABCC6|0.022547171|72.9%

ADAMTS18
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 2632_s12 16 rs8059275
dbSNP Clinvar 		77389956 100.0 A G PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.88219 0.88220 0.12527 None None None None None None ADAMTS18|0.112557021|48.75%

AGBL1
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 2632_s12 15 rs1566088
dbSNP Clinvar 		86806029 100.0 C T PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.30818 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs1006030
dbSNP Clinvar 		87531281 100.0 A C PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.19396 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs8028043
dbSNP Clinvar 		87217613 100.0 A G PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.89217 0.89220 0.11030 1.00 0.00 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs11858435
dbSNP Clinvar 		86814866 100.0 A G PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.68211 0.68210 0.26808 None None None None None None AGBL1|0.082073978|54.74%

BEST1
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 2632_s12 11 rs1800009
dbSNP Clinvar 		61730234 100.0 T C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.59145 0.59150 0.39932 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%

COL12A1
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 2632_s12 6 rs594012
dbSNP Clinvar 		75841722 100.0 A T PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.88618 0.88620 0.11774 None None None None None None COL12A1|0.494206072|16.13%

COL17A1
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 2632_s12 10 rs2476958
dbSNP Clinvar 		105796819 100.0 A G PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.98602 0.98600 0.01377 None None None None None None COL17A1|0.220252717|34.39%
View 2632_s12 10 rs2274100
dbSNP Clinvar 		105798872 100.0 T C PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.68151 0.68150 0.27749 None None None None None None COL17A1|0.220252717|34.39%
View 2632_s12 10 rs805698
dbSNP Clinvar 		105816916 100.0 C T PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.81849 0.81850 0.15113 0.46 0.00 None None None None None None COL17A1|0.220252717|34.39%

COL4A1
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 2632_s12 13 rs536174
dbSNP Clinvar 		110839550 100.0 T G PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
View 2632_s12 13 rs1373744
dbSNP Clinvar 		110843985 100.0 T C PASS 1/1 95 None None None 0.91613 0.91610 None None None None None None COL4A1|0.224151486|33.94%

COL4A2
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 2632_s12 13 rs391859
dbSNP Clinvar 		111160304 100.0 G A PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.10084 0.10080 0.08723 None None None None None None COL4A2|0.044971251|64.22%
View 2632_s12 13 rs445348
dbSNP Clinvar 		111158874 100.0 A G PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 2632_s12 13 rs4771683
dbSNP Clinvar 		111156499 100.0 C T PASS 1/1 21 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View 2632_s12 13 rs438758
dbSNP Clinvar 		111155773 100.0 T C PASS 1/1 21 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 2632_s12 13 rs409858
dbSNP Clinvar 		111154061 100.0 T C PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View 2632_s12 13 rs439831
dbSNP Clinvar 		111154058 100.0 T A PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
View 2632_s12 13 rs4238272
dbSNP Clinvar 		111077197 100.0 G A PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%

COL4A3
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 2632_s12 2 rs10178458
dbSNP Clinvar 		228111435 100.0 T C PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.79673 0.79670 0.22958 1.00 0.01 None None None None None None COL4A3|0.119573089|47.51%
View 2632_s12 2 rs6436669
dbSNP Clinvar 		228113175 100.0 A G PASS 1/1 106 NON_SYNONYMOUS_CODING MODERATE None 0.79633 0.79630 0.22987 1.00 0.01 None None None None None None COL4A3|0.119573089|47.51%
View 2632_s12 2 rs10205042
dbSNP Clinvar 		228128540 100.0 C T PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.76757 0.76760 0.28196 None None None None None None COL4A3|0.119573089|47.51%
View 2632_s12 2 rs13424243
dbSNP Clinvar 		228102723 100.0 G C PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.23023 0.23020 0.35109 0.02 0.99 None None None None None None COL4A3|0.119573089|47.51%

COL4A4
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 2632_s12 2 rs3752895
dbSNP Clinvar 		227886773 100.0 A G PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.52616 0.52620 0.47825 0.95 0.00 None None None None None None COL4A4|0.099677436|51.24%
View 2632_s12 2 rs2229814
dbSNP Clinvar 		227954599 100.0 G A PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.54852 0.54850 0.49096 0.87 0.00 None None None None None None COL4A4|0.099677436|51.24%
View 2632_s12 2 rs10203363
dbSNP Clinvar 		227896976 100.0 C T PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.49501 0.49500 0.45120 None None None None None None COL4A4|0.099677436|51.24%

COL5A1
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 2632_s12 9 rs2228560
dbSNP Clinvar 		137711997 100.0 G C PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.01937 0.01937 0.42519 None None None None None None COL5A1|0.207487878|35.85%

COL5A2
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 2632_s12 2 rs4128539
dbSNP Clinvar 		189974958 100.0 G T PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.88858 0.88860 0.06005 None None None None None None COL5A2|0.575233366|12.81%
View 2632_s12 2 rs2229495
dbSNP Clinvar 		189932831 100.0 T C PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.94289 0.94290 0.03737 None None None None None None COL5A2|0.575233366|12.81%
View 2632_s12 2 rs6434312
dbSNP Clinvar 		189907937 100.0 A G PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.02868 None None None None None None COL5A2|0.575233366|12.81%

FOXE3
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 2632_s12 1 rs34082359
dbSNP Clinvar 		47882497 100.0 C T PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.27855 0.27860 0.31318 None None None None None None FOXE3|0.032576489|68.36%

GPR98
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 2632_s12 5 rs2247870
dbSNP Clinvar 		90151589 100.0 G A PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.45907 0.45910 0.43475 0.08 0.18 None None None None None None ADGRV1|0.328571635|25.58%
View 2632_s12 5 rs2438378
dbSNP Clinvar 		90119324 100.0 G A PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.97224 0.97220 0.02790 0.25 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 2632_s12 5 rs2438374
dbSNP Clinvar 		90107108 100.0 A G PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.94609 0.94610 0.06388 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%

ITGB1
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 2632_s12 10 rs2230396
dbSNP Clinvar 		33209266 100.0 G T PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.78455 0.78450 0.17446 None None None None None None ITGB1|0.816912657|5.38%

KRT13
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 2632_s12 17 rs8182306
dbSNP Clinvar 		39661689 100.0 G A PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.85503 0.85500 0.13248 None None None None None None KRT13|0.071438602|57.11%
View 2632_s12 17 rs4796697
dbSNP Clinvar 		39659194 100.0 T C PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.90395 0.90400 0.08496 0.04 0.03 None None None None None None KRT13|0.071438602|57.11%
View 2632_s12 17 rs9891361
dbSNP Clinvar 		39659913 100.0 G A PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.30486 0.04 0.78 None None None None None None KRT13|0.071438602|57.11%

KRT15
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 2632_s12 17 rs897420
dbSNP Clinvar 		39670912 100.0 G C PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.97284 0.97280 0.02791 0.62 0.00 None None None None None None KRT15|0.103828379|50.45%
View 2632_s12 17 rs1050784
dbSNP Clinvar 		39674641 100.0 T C PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.73283 0.73280 0.37967 0.58 0.01 None None None None None None KRT15|0.103828379|50.45%

KRT16
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 2632_s12 17 rs4796681
dbSNP Clinvar 		39767744 100.0 A G PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.77416 0.77420 0.37168 None None None None None None KRT16|0.063740015|58.95%

KRT24
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 2632_s12 17 rs11309872
dbSNP Clinvar 		38858134 100.0 CA C PASS 1/1 96 FRAME_SHIFT HIGH None 0.46486 0.46490 0.36867 None None None None None None KRT24|0.036955337|66.8%
View 2632_s12 17 rs2462961
dbSNP Clinvar 		38855772 100.0 T C PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.48693 1.00 0.00 None None None None None None KRT24|0.036955337|66.8%
View 2632_s12 17 rs874889
dbSNP Clinvar 		38857446 100.0 C A PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.47684 0.47680 0.38090 0.57 0.00 None None None None None None KRT24|0.036955337|66.8%

KRT3
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 2632_s12 12 rs4432093
dbSNP Clinvar 		53186122 100.0 G A PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.78774 0.78770 0.18937 None None None None None None KRT3|0.041114774|65.41%

LRRN1
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 2632_s12 3 rs2120609
dbSNP Clinvar 		3887876 100.0 T C PASS 1/1 21 SYNONYMOUS_CODING LOW None 0.47844 0.47840 0.36891 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 2632_s12 3 rs4685689
dbSNP Clinvar 		3886580 100.0 A G PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.98682 0.98680 0.01776 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%

LTBP2
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 2632_s12 14 rs862031
dbSNP Clinvar 		74991855 100.0 A G PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.72824 0.72820 0.28618 None None None None None None LTBP2|0.184719306|38.39%
View 2632_s12 14 rs699374
dbSNP Clinvar 		74992800 100.0 A G PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.35335 None None None None None None LTBP2|0.184719306|38.39%

MAP3K19
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 2632_s12 2 rs16831235
dbSNP Clinvar 		135745129 100.0 G A PASS 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.13239 0.13240 0.13002 0.02 0.17 None None None None None None MAP3K19|0.070109416|57.46%

MYLK
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 2632_s12 3 rs9840993
dbSNP Clinvar 		123457893 100.0 G A PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.85623 0.85620 0.12756 0.09 0.05 None None None None None None MYLK|0.503223171|15.7%
View 2632_s12 3 rs4678047
dbSNP Clinvar 		123452838 100.0 G A PASS 1/1 15 SYNONYMOUS_CODING LOW None 0.63279 0.63280 0.42565 None None None None None None MYLK|0.503223171|15.7%
View 2632_s12 3 rs9833275
dbSNP Clinvar 		123451773 100.0 G C PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.99900 0.99900 0.00138 1.00 0.00 None None None None None None MYLK|0.503223171|15.7%

PIK3CG
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 2632_s12 7 rs849390
dbSNP Clinvar 		106508987 100.0 T C PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.08127 None None None None None None PIK3CG|0.990082262|1.08%
View 2632_s12 7 rs1129293
dbSNP Clinvar 		106513011 100.0 C T PASS 1/1 108 SYNONYMOUS_CODING LOW None 0.25379 0.25380 0.23889 None None None None None None PIK3CG|0.990082262|1.08%
View 2632_s12 7 rs849389
dbSNP Clinvar 		106508978 100.0 A G PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.08258 None None None None None None PIK3CG|0.990082262|1.08%

PIKFYVE
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 2632_s12 2 rs2363468
dbSNP Clinvar 		209190330 100.0 T C PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.91174 0.91170 0.07758 0.88 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 2632_s12 2 rs893253
dbSNP Clinvar 		209190528 100.0 C G PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.91214 0.91210 0.07689 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 2632_s12 2 rs1529979
dbSNP Clinvar 		209191082 100.0 C A PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.91154 0.91150 0.07766 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 2632_s12 2 rs1529978
dbSNP Clinvar 		209191099 100.0 T C PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.99601 0.99600 0.00538 None None None None None None PIKFYVE|0.407766308|20.32%
View 2632_s12 2 rs2304545
dbSNP Clinvar 		209212707 100.0 G A PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.71605 0.71610 0.31693 None None None None None None PIKFYVE|0.407766308|20.32%
View 2632_s12 2 rs2118297
dbSNP Clinvar 		209214770 100.0 A G PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.91114 0.91110 0.07821 None None None None None None PIKFYVE|0.407766308|20.32%
View 2632_s12 2 rs994697
dbSNP Clinvar 		209215586 100.0 A G PASS 1/1 99 SYNONYMOUS_CODING LOW None 0.91114 0.91110 0.07812 None None None None None None PIKFYVE|0.407766308|20.32%
View 2632_s12 2 rs10932258
dbSNP Clinvar 		209184980 100.0 G A PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.99181 0.99180 0.00785 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 2632_s12 2 rs10932259
dbSNP Clinvar 		209184999 100.0 C T PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.07787 None None None None None None PIKFYVE|0.407766308|20.32%
View 2632_s12 2 rs893254
dbSNP Clinvar 		209190519 100.0 A T PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.91154 0.91150 0.07766 0.22 0.00 None None None None None None PIKFYVE|0.407766308|20.32%

PXDN
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 2632_s12 2 rs6730800
dbSNP Clinvar 		1647171 100.0 T C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.90775 0.90770 0.13656 None None None None None None PXDN|0.054174855|61.43%
View 2632_s12 2 rs1863135
dbSNP Clinvar 		1652822 100.0 T G PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.93550 0.93550 0.10085 None None None None None None PXDN|0.054174855|61.43%
View 2632_s12 2 rs17841813
dbSNP Clinvar 		1664654 100.0 A G PASS 1/1 45 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81090 0.81090 0.28651 None None None None None None PXDN|0.054174855|61.43%

PXN
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 2632_s12 12 rs4767884
dbSNP Clinvar 		120661977 100.0 T C PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.90076 0.90080 0.16978 0.56 0.00 None None None None None None PXN|0.716901595|8.07%

SFTPD
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 2632_s12 10 rs721917
dbSNP Clinvar 		81706324 100.0 A G PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.50459 0.50460 0.41358 0.32 0.00 None None None None None None SFTPD|0.023000884|72.72%
View 2632_s12 10 rs2243639
dbSNP Clinvar 		81701722 100.0 T C PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.77037 0.77040 0.28395 1.00 0.00 None None None None None None SFTPD|0.023000884|72.72%

SIX5
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 2632_s12 19 rs2014377
dbSNP Clinvar 		46269313 100.0 G C PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.90395 0.90400 0.12762 1.00 0.00 None None None None None None SIX5|0.127519574|46.26%

SLC4A11
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 2632_s12 20 rs3827075
dbSNP Clinvar 		3214819 100.0 T G PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.47983 0.47980 0.48093 None None None None None None SLC4A11|0.04004945|65.76%
View 2632_s12 20 rs3810562
dbSNP Clinvar 		3218634 100.0 G C PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.64157 0.64160 0.67 0.00 None None None None None None SLC4A11|0.04004945|65.76%
View 2632_s12 20 rs41281860
dbSNP Clinvar 		3210301 100.0 G A PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.04852 0.04852 0.09380 None None None None None None SLC4A11|0.04004945|65.76%

TCF4
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 2632_s12 18 rs611326
dbSNP Clinvar 		53303101 100.0 C G PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00123 0.52 0.00 None None None None None None TCF4|0.999272266|0.38%
View 2632_s12 18 rs17522826
dbSNP Clinvar 		53070914 100.0 G A PASS 1/1 18 None None None 0.19229 0.19230 0.03 None None None None None None TCF4|0.999272266|0.38%

WNT9B
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 2632_s12 17 rs4968281
dbSNP Clinvar 		44950122 100.0 T C PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.70707 0.70710 0.20855 0.46 0.00 None None None None None None WNT9B|0.216421213|34.84%

ZNF469
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2632_s12 16 rs9931465
dbSNP Clinvar 		88499539 100.0 C G PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.77955 0.77960 0.18034 None None None None None None ZNF469|0.000923153|95.92%
View 2632_s12 16 rs1983014
dbSNP Clinvar 		88502505 100.0 A G PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.99621 0.99620 0.00483 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 2632_s12 16 rs904783
dbSNP Clinvar 		88504868 100.0 A G PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00022 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 2632_s12 16 rs4782301
dbSNP Clinvar 		88505635 100.0 A G PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.79633 0.79630 0.22434 None None None None None None ZNF469|0.000923153|95.92%
View 2632_s12 16 rs4782362
dbSNP Clinvar 		88505734 100.0 C T PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.98722 0.98720 0.01205 None None None None None None ZNF469|0.000923153|95.92%
View 2632_s12 16 rs28723506
dbSNP Clinvar 		88495367 100.0 G A PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.08067 0.08067 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 2632_s12 16 rs12927001
dbSNP Clinvar 		88495654 100.0 A G PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.87480 0.87480 None None None None None None ZNF469|0.000923153|95.92%
View 2632_s12 16 rs7199961
dbSNP Clinvar 		88495407 100.0 G C PASS 1/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.99161 0.99160 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 2632_s12 16 rs12445417
dbSNP Clinvar 		88498297 100.0 T G PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.84645 0.84640 0.16032 None None None None None None ZNF469|0.000923153|95.92%
View 2632_s12 16 rs12918876
dbSNP Clinvar 		88496008 100.0 T C PASS 1/1 23 SYNONYMOUS_CODING LOW None 0.60443 0.60440 None None None None None None ZNF469|0.000923153|95.92%
View 2632_s12 16 rs9924504
dbSNP Clinvar 		88497031 100.0 T C PASS 1/1 15 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None ZNF469|0.000923153|95.92%
View 2632_s12 16 rs4782300
dbSNP Clinvar 		88498221 100.0 C T PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.84425 0.84420 0.12275 0.00 None None None None None None ZNF469|0.000923153|95.92%
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 2632_s12 11 rs195155
dbSNP Clinvar 		61731534 100.0 G T PASS 1/1 44 None None None 0.99641 0.99640 0.00469 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%
View 2632_s12 13 rs7988186
dbSNP Clinvar 		111098338 100.0 A T PASS 1/1 43 None None None 0.99121 0.99120 None None None None None None COL4A2|0.044971251|64.22%
View 2632_s12 10 rs805705
dbSNP Clinvar 		105821294 100.0 A G PASS 1/1 15 None None None 0.83806 0.83810 0.11870 None None None None None None COL17A1|0.220252717|34.39%
View 2632_s12 10 rs805704
dbSNP Clinvar 		105821136 100.0 A T PASS 1/1 16 None None None 0.05811 0.05811 0.08358 None None None None None None COL17A1|0.220252717|34.39%
View 2632_s12 13 rs7326449
dbSNP Clinvar 		111099122 100.0 G A PASS 1/1 36 None None None 0.68890 0.68890 0.23115 None None None None None None COL4A2|0.044971251|64.22%