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+ Genes 42

+ Genes associated with diseases 32

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, COL5A2, COL8A2, CYP4V2, FOXE3, IL1RN, KERA, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, PXDN, SLC4A11, TGFBI, 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)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (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)
COL8A2 Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)
Corneal dystrophy, posterior polymorphous 2, 609140 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (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)
IL1RN {Gastric cancer risk after H. pylori infection}, 137215 (3)
{Microvascular complications of diabetes 4}, 612628 (3)
Interleukin 1 receptor antagonist deficiency, 612852 (3)
KERA Cornea plana 2, autosomal recessive, 217300 (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)
MTOR Focal cortical dysplasia, type II, somatic, 607341 (3)
Smith-Kingsmore syndrome, 616638 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
NLRP1 Autoinflammation with arthritis and dyskeratosis, 617388 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
Palmoplantar carcinoma, multiple self-healing, 615225 (3)
PIK3R1 Immunodeficiency 36, 616005 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
SHORT syndrome, 269880 (3)
PIKFYVE Corneal fleck dystrophy, 121850 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
TGFBI Corneal dystrophy, Avellino type, 607541 (3)
Corneal dystrophy, Groenouw type I, 121900 (3)
Corneal dystrophy, Reis-Bucklers type, 608470 (3)
Corneal dystrophy, Thiel-Behnke type, 602082 (3)
Corneal dystrophy, epithelial basement membrane, 121820 (3)
Corneal dystrophy, lattice type I, 122200 (3)
Corneal dystrophy, lattice type IIIA, 608471 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, COL5A2, COL8A2, CYP4V2, FOXE3, IL1RN, KERA, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, PXDN, SLC4A11, TGFBI, 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
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
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
COL8A2 Corneal dystrophy polymorphous posterior, 2
Corneal dystrophy, Fuchs endothelial, 1
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
FOXE3 Aphakia, congenital primary
Anterior segment mesenchymal dysgenesis
IL1RN Osteomyelitis, sterile multifocal, with periostitis and pustulosis
KERA Cornea plana 2, autosomal recessive
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
MTOR Smith-Kingsmore syndrome
MYLK Aortic aneurysm, familial thoracic 7
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PIKFYVE Corneal fleck dystrophy
PXDN Corneal opacification with other ocular anomalies
SLC4A11 Cryohydrocytosis
TGFBI Corneal dystrophy, lattice type I
Corneal dystrophy, lattice type IIIA
Corneal dystrophy of Bowman layer, type I
Corneal dystrophy, Avellino type
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, Groenouw type I
Corneal dystrophy, epithelial basement membrane
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 112
Number of Genes: 42

Export to: CSV

ABCA4
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 12083_s14 1 rs1762114
dbSNP Clinvar 		94471075 100.0 A G PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 None None None None None None ABCA4|0.440503373|18.63%
View 12083_s14 1 rs4847281
dbSNP Clinvar 		94578548 100.0 T C PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%
View 12083_s14 1 rs4147831
dbSNP Clinvar 		94544233 100.0 G A PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.09457 None None None None None None ABCA4|0.440503373|18.63%
View 12083_s14 1 . 94544200 100.0 T C PASS 0/1 31 SYNONYMOUS_CODING LOW None None None None None None None ABCA4|0.440503373|18.63%

ABCC6
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 12083_s14 16 rs7500834
dbSNP Clinvar 		16272670 100.0 T C PASS 1/1 134 SYNONYMOUS_CODING LOW None 0.96446 0.96450 0.03548 None None None None None None ABCC6|0.022547171|72.9%

ADAMTS18
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 12083_s14 16 rs8059275
dbSNP Clinvar 		77389956 100.0 A G PASS 1/1 71 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12083_s14 15 rs10520618
dbSNP Clinvar 		86807761 100.0 A G PASS 1/1 115 SYNONYMOUS_CODING LOW None 0.50539 0.50540 0.47409 None None None None None None AGBL1|0.082073978|54.74%
View 12083_s14 15 rs1353578
dbSNP Clinvar 		86800209 100.0 C T PASS 0/1 49 SYNONYMOUS_CODING LOW None 0.53974 0.53970 0.35463 None None None None None None AGBL1|0.082073978|54.74%
View 12083_s14 15 rs1566088
dbSNP Clinvar 		86806029 100.0 C T PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.30818 None None None None None None AGBL1|0.082073978|54.74%
View 12083_s14 15 rs1006030
dbSNP Clinvar 		87531281 100.0 A C PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.19396 None None None None None None AGBL1|0.082073978|54.74%
View 12083_s14 15 rs4362360
dbSNP Clinvar 		86940622 100.0 T C PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.74421 0.74420 0.39279 None None None None None None AGBL1|0.082073978|54.74%
View 12083_s14 15 rs9630451
dbSNP Clinvar 		86838497 100.0 C T PASS 0/1 133 SYNONYMOUS_CODING LOW None 0.17851 0.17850 0.15089 None None None None None None AGBL1|0.082073978|54.74%
View 12083_s14 15 rs11858435
dbSNP Clinvar 		86814866 100.0 A G PASS 1/1 56 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12083_s14 11 rs1800009
dbSNP Clinvar 		61730234 100.0 T C PASS 1/1 50 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%
View 12083_s14 11 rs1109748
dbSNP Clinvar 		61722645 100.0 C A PASS 1/1 134 SYNONYMOUS_CODING LOW None 0.31749 0.31750 0.07653 None None None None None None BEST1|0.0975286|51.61%

COL12A1
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 12083_s14 6 rs594012
dbSNP Clinvar 		75841722 100.0 A T PASS 1/1 71 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 12083_s14 10 rs2274100
dbSNP Clinvar 		105798872 100.0 T C PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.68151 0.68150 0.27749 None None None None None None COL17A1|0.220252717|34.39%
View 12083_s14 10 rs2476958
dbSNP Clinvar 		105796819 100.0 A G PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.98602 0.98600 0.01377 None None None None None None COL17A1|0.220252717|34.39%
View 12083_s14 10 rs805701
dbSNP Clinvar 		105819956 100.0 G A PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.55252 0.55250 0.44480 None None None None None None COL17A1|0.220252717|34.39%
View 12083_s14 10 rs4918079
dbSNP Clinvar 		105801253 100.0 G A PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.67392 0.67390 0.28187 None None None None None None COL17A1|0.220252717|34.39%
View 12083_s14 10 rs2296219
dbSNP Clinvar 		105799216 100.0 G T PASS 1/1 15 SYNONYMOUS_CODING LOW None 0.68351 0.68350 0.28487 None None None None None None COL17A1|0.220252717|34.39%

COL2A1
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 12083_s14 12 rs1635553
dbSNP Clinvar 		48375568 100.0 A G PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.45279 None None None None None None COL2A1|0.956600158|2.04%
View 12083_s14 12 rs2276454
dbSNP Clinvar 		48376291 87.0 G A PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.42971 0.42970 0.38682 None None None None None None COL2A1|0.956600158|2.04%

COL4A1
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 12083_s14 13 rs532625
dbSNP Clinvar 		110864225 100.0 A T PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.47284 0.47280 0.43957 None None None None None None COL4A1|0.224151486|33.94%

COL4A2
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 12083_s14 13 rs4103
dbSNP Clinvar 		111098226 100.0 C T PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.48987 None None None None None None COL4A2|0.044971251|64.22%
View 12083_s14 13 rs445348
dbSNP Clinvar 		111158874 100.0 A G PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 12083_s14 13 rs4771683
dbSNP Clinvar 		111156499 100.0 C T PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View 12083_s14 13 rs438758
dbSNP Clinvar 		111155773 100.0 T C PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 12083_s14 13 rs409858
dbSNP Clinvar 		111154061 100.0 T C PASS 1/1 123 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View 12083_s14 13 rs439831
dbSNP Clinvar 		111154058 100.0 T A PASS 1/1 123 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
View 12083_s14 13 rs7990214
dbSNP Clinvar 		111111173 100.0 G A PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.49141 0.49140 0.37904 None None None None None None COL4A2|0.044971251|64.22%
View 12083_s14 13 rs74941798
dbSNP Clinvar 		111102126 100.0 C T PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.24681 0.24680 0.28476 None None None None None None COL4A2|0.044971251|64.22%
View 12083_s14 13 rs76425569
dbSNP Clinvar 		111102042 100.0 G A PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.23862 0.23860 0.26285 None None None None None None COL4A2|0.044971251|64.22%
View 12083_s14 13 rs4238272
dbSNP Clinvar 		111077197 100.0 G A PASS 1/1 72 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12083_s14 2 rs10205042
dbSNP Clinvar 		228128540 100.0 C T PASS 1/1 139 SYNONYMOUS_CODING LOW None 0.76757 0.76760 0.28196 None None None None None None COL4A3|0.119573089|47.51%

COL4A4
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 12083_s14 2 rs2228557
dbSNP Clinvar 		227872182 100.0 G A PASS 1/1 126 SYNONYMOUS_CODING LOW None 0.51438 0.51440 0.46041 None None None None None None COL4A4|0.099677436|51.24%
View 12083_s14 2 rs2228555
dbSNP Clinvar 		227872995 100.0 T C PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.64058 0.64060 0.41430 None None None None None None COL4A4|0.099677436|51.24%
View 12083_s14 2 rs2228556
dbSNP Clinvar 		227892619 100.0 C T PASS 0/1 127 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.45464 None None None None None None COL4A4|0.099677436|51.24%
View 12083_s14 2 rs10203363
dbSNP Clinvar 		227896976 100.0 C T PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.49501 0.49500 0.45120 None None None None None None COL4A4|0.099677436|51.24%
View 12083_s14 2 rs2229812
dbSNP Clinvar 		227896886 100.0 C T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.49561 0.49560 0.45256 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 12083_s14 9 rs2228560
dbSNP Clinvar 		137711997 100.0 G C PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.01937 0.01937 0.42519 None None None None None None COL5A1|0.207487878|35.85%
View 12083_s14 9 rs3124299
dbSNP Clinvar 		137619195 100.0 C T PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.34265 0.34270 0.33215 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 12083_s14 2 rs4128539
dbSNP Clinvar 		189974958 100.0 G T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.88858 0.88860 0.06005 None None None None None None COL5A2|0.575233366|12.81%
View 12083_s14 2 rs2229495
dbSNP Clinvar 		189932831 100.0 T C PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.94289 0.94290 0.03737 None None None None None None COL5A2|0.575233366|12.81%
View 12083_s14 2 rs6434312
dbSNP Clinvar 		189907937 100.0 A G PASS 0/1 145 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.02868 None None None None None None COL5A2|0.575233366|12.81%

COL8A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12083_s14 1 rs35495320
dbSNP Clinvar 		36563797 100.0 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.18151 0.18150 0.02243 None None None None None None COL8A2|0.188633378|37.99%
View 12083_s14 1 rs57985157
dbSNP Clinvar 		36565739 100.0 C T PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.09665 0.09665 0.01153 None None None None None None COL8A2|0.188633378|37.99%

CYP4V2
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 12083_s14 4 rs3736455
dbSNP Clinvar 		187122319 100.0 T G PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.57748 0.57750 0.36007 None None None None None None CYP4V2|0.027940176|70.46%

DOCK9
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 12083_s14 13 rs2296984
dbSNP Clinvar 		99457431 100.0 T G PASS 0/1 144 SYNONYMOUS_CODING LOW None 0.20587 0.20590 0.19774 None None None None None None DOCK9|0.3175759|26.27%
View 12083_s14 13 rs12428661
dbSNP Clinvar 		99575568 100.0 G A PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.00040 0.16750 0.13827 None None None None None None DOCK9|0.3175759|26.27%

FOXE3
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 12083_s14 1 rs34082359
dbSNP Clinvar 		47882497 100.0 C T PASS 0/1 49 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12083_s14 5 rs16876822
dbSNP Clinvar 		89989779 100.0 G A PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.32209 0.32210 0.29030 None None None None None None ADGRV1|0.328571635|25.58%
View 12083_s14 5 rs16869042
dbSNP Clinvar 		90020923 100.0 T G PASS 1/1 136 SYNONYMOUS_CODING LOW None 0.29627 None None None None None None ADGRV1|0.328571635|25.58%
View 12083_s14 5 rs2438349
dbSNP Clinvar 		90052372 100.0 C T PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.53934 0.53930 0.47965 None None None None None None ADGRV1|0.328571635|25.58%

IL1RN
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 12083_s14 2 rs315952
dbSNP Clinvar 		113890304 100.0 T C PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.35004 0.35000 0.33315 None None None None None None IL1RN|0.11539686|48.22%

ITGB1
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 12083_s14 10 rs2298141
dbSNP Clinvar 		33214802 100.0 A G PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.15655 0.15650 0.13532 None None None None None None ITGB1|0.816912657|5.38%
View 12083_s14 10 rs2230396
dbSNP Clinvar 		33209266 100.0 G T PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.78455 0.78450 0.17446 None None None None None None ITGB1|0.816912657|5.38%

KERA
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 12083_s14 12 rs2735333
dbSNP Clinvar 		91449990 100.0 C T PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.62001 0.62000 0.36689 None None None None None None KERA|0.287600325|28.54%

KRT13
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 12083_s14 17 rs8182306
dbSNP Clinvar 		39661689 100.0 G A PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.85503 0.85500 0.13248 None None None None None None KRT13|0.071438602|57.11%

KRT16
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 12083_s14 17 rs4796681
dbSNP Clinvar 		39767744 100.0 A G PASS 1/1 109 SYNONYMOUS_CODING LOW None 0.77416 0.77420 0.37168 None None None None None None KRT16|0.063740015|58.95%

KRT23
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 12083_s14 17 rs8037
dbSNP Clinvar 		39081713 100.0 A G PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.57089 0.57090 0.44103 None None None None None None KRT23|0.054190188|61.41%

KRT3
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 12083_s14 12 rs4432093
dbSNP Clinvar 		53186122 100.0 G A PASS 1/1 55 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12083_s14 3 rs4685689
dbSNP Clinvar 		3886580 100.0 A G PASS 1/1 71 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%
View 12083_s14 3 rs9844909
dbSNP Clinvar 		3887093 100.0 A G PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.25200 0.25200 0.20094 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 12083_s14 3 rs2120609
dbSNP Clinvar 		3887876 100.0 T C PASS 0/1 39 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%

LTBP2
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 12083_s14 14 rs699374
dbSNP Clinvar 		74992800 100.0 A G PASS 0/1 41 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.35335 None None None None None None LTBP2|0.184719306|38.39%
View 12083_s14 14 rs862031
dbSNP Clinvar 		74991855 100.0 A G PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.72824 0.72820 0.28618 None None None None None None LTBP2|0.184719306|38.39%

MAP3K19
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 12083_s14 2 rs10928526
dbSNP Clinvar 		135745722 100.0 A G PASS 1/1 77 SYNONYMOUS_CODING LOW None 0.36282 0.36280 0.25934 None None None None None None MAP3K19|0.070109416|57.46%
View 12083_s14 2 rs11899779
dbSNP Clinvar 		135745545 100.0 C T PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.36262 0.36260 0.25911 None None None None None None MAP3K19|0.070109416|57.46%

MTOR
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 12083_s14 1 rs1057079
dbSNP Clinvar 		11205058 100.0 C T PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.45410 None None None None None None MTOR|0.997612705|0.59%
View 12083_s14 1 rs1135172
dbSNP Clinvar 		11301714 100.0 A G PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.63958 0.63960 0.41466 None None None None None None MTOR|0.997612705|0.59%
View 12083_s14 1 rs1064261
dbSNP Clinvar 		11288758 100.0 G A PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.70048 0.70050 0.38244 None None None None None None MTOR|0.997612705|0.59%
View 12083_s14 1 rs146939024
dbSNP Clinvar 		11206739 100.0 T C PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None MTOR|0.997612705|0.59%

MYLK
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 12083_s14 3 rs4678047
dbSNP Clinvar 		123452838 100.0 G A PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.63279 0.63280 0.42565 None None None None None None MYLK|0.503223171|15.7%
View 12083_s14 3 rs1254392
dbSNP Clinvar 		123368013 100.0 A G PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.39617 0.39620 0.22459 None None None None None None MYLK|0.503223171|15.7%
View 12083_s14 3 rs865358
dbSNP Clinvar 		123418913 100.0 G A PASS 1/1 10 SYNONYMOUS_CODING LOW None 0.94788 0.94790 0.05836 None None None None None None MYLK|0.503223171|15.7%

NLRP1
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 12083_s14 17 rs884367
dbSNP Clinvar 		5487164 100.0 C G PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.28315 0.28310 0.12991 None None None None None None NLRP1|0.001451196|93.02%

PIK3CG
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 12083_s14 7 rs849390
dbSNP Clinvar 		106508987 100.0 T C PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.08127 None None None None None None PIK3CG|0.990082262|1.08%
View 12083_s14 7 rs849389
dbSNP Clinvar 		106508978 100.0 A G PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.08258 None None None None None None PIK3CG|0.990082262|1.08%

PIK3R1
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 12083_s14 5 rs17847317
dbSNP Clinvar 		67589182 100.0 T C PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.00008 None None None None None None PIK3R1|0.917149804|3.05%
View 12083_s14 5 rs706713
dbSNP Clinvar 		67522722 100.0 C T PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.41933 0.41930 0.29333 None None None None None None PIK3R1|0.917149804|3.05%

PIKFYVE
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 12083_s14 2 rs994697
dbSNP Clinvar 		209215586 100.0 A G PASS 1/1 121 SYNONYMOUS_CODING LOW None 0.91114 0.91110 0.07812 None None None None None None PIKFYVE|0.407766308|20.32%
View 12083_s14 2 rs2304545
dbSNP Clinvar 		209212707 100.0 G A PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.71605 0.71610 0.31693 None None None None None None PIKFYVE|0.407766308|20.32%
View 12083_s14 2 rs1529978
dbSNP Clinvar 		209191099 100.0 T C PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.99601 0.99600 0.00538 None None None None None None PIKFYVE|0.407766308|20.32%
View 12083_s14 2 rs10932259
dbSNP Clinvar 		209184999 100.0 C T PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.07787 None None None None None None PIKFYVE|0.407766308|20.32%
View 12083_s14 2 rs2118297
dbSNP Clinvar 		209214770 100.0 A G PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.91114 0.91110 0.07821 None None None None None None PIKFYVE|0.407766308|20.32%

PTK2
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 12083_s14 8 rs10100025
dbSNP Clinvar 		141716284 100.0 G A PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.14876 0.14880 0.13255 None None None None None None PTK2|0.369628478|22.73%

PXDN
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 12083_s14 2 rs17841813
dbSNP Clinvar 		1664654 100.0 A G PASS 1/1 89 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81090 0.81090 0.28651 None None None None None None PXDN|0.054174855|61.43%
View 12083_s14 2 rs1863135
dbSNP Clinvar 		1652822 100.0 T G PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.93550 0.93550 0.10085 None None None None None None PXDN|0.054174855|61.43%
View 12083_s14 2 rs6730800
dbSNP Clinvar 		1647171 100.0 T C PASS 1/1 77 SYNONYMOUS_CODING LOW None 0.90775 0.90770 0.13656 None None None None None None PXDN|0.054174855|61.43%

SLC4A11
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 12083_s14 20 rs3803956
dbSNP Clinvar 		3214581 100.0 C T PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.16633 0.16630 0.18622 None None None None None None SLC4A11|0.04004945|65.76%

TGFBI
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 12083_s14 5 rs1442
dbSNP Clinvar 		135382989 100.0 G C PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.31769 0.31770 0.34348 None None None None None None TGFBI|0.999587957|0.3%
View 12083_s14 5 rs1054124
dbSNP Clinvar 		135388663 100.0 A G PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.38718 0.38720 0.34547 None None None None None None TGFBI|0.999587957|0.3%
View 12083_s14 5 rs4669
dbSNP Clinvar 		135392426 100.0 T C PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.42053 0.42050 0.37555 None None None None None None TGFBI|0.999587957|0.3%
View 12083_s14 5 rs35151677
dbSNP Clinvar 		135394903 100.0 G A PASS 0/1 88 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.04034 0.04034 0.01610 None None None None None None TGFBI|0.999587957|0.3%

TLN1
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 12083_s14 9 rs10814270
dbSNP Clinvar 		35704150 100.0 C T PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.11701 0.11700 0.04167 None None None None None None TLN1|0.598640538|11.8%
View 12083_s14 9 rs11541908
dbSNP Clinvar 		35705759 100.0 G A PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.16913 0.16910 0.19683 None None None None None None TLN1|0.598640538|11.8%

WNT9A
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 12083_s14 1 rs3795768
dbSNP Clinvar 		228113163 100.0 A G PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.68770 0.68770 0.24649 None None None None None None WNT9A|0.206885197|35.91%

ZNF469
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 12083_s14 16 rs9938800
dbSNP Clinvar 		88497400 100.0 G A PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.90256 0.90260 None None None None None None ZNF469|0.000923153|95.92%
View 12083_s14 16 rs9924504
dbSNP Clinvar 		88497031 100.0 T C PASS 1/1 21 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None ZNF469|0.000923153|95.92%