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+ Genes 46

+ Genes associated with diseases 38

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, COL5A2, COL6A1, COL8A2, CYP4V2, FOXE3, GSN, KERA, KRT13, KRT16, KRT3, LOX, LTBP2, MTOR, MYLK, NLRP1, PAX6, PIK3R1, PIKFYVE, PRDM5, PXDN, SLC4A11, TCF4, TGFBI, ZEB1, 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)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (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)
GSN Amyloidosis, Finnish type, 105120 (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)
LOX Aortic aneurysm, familial thoracic 10, 617168 (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)
PAX6 Foveal hypoplasia 1, 136520 (3)
Aniridia, 106210 (3)
Anterior segment dysgenesis 5, multiple subtypes, 604229 (3)
Cataract with late-onset corneal dystrophy, 106210 (3)
Keratitis, 148190 (3)
Optic nerve hypoplasia, 165550 (3)
?Morning glory disc anomaly, 120430 (3)
?Coloboma of optic nerve, 120430 (3)
?Coloboma, ocular, 120200 (3)
PIK3R1 Immunodeficiency 36, 616005 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
SHORT syndrome, 269880 (3)
PIKFYVE Corneal fleck dystrophy, 121850 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (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)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (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)
ZEB1 Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
Corneal dystrophy, posterior polymorphous, 3, 609141 (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, COL6A1, COL8A2, CYP4V2, FOXE3, GSN, KERA, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, NLRP1, PAX6, PIK3R1, PIKFYVE, PRDM5, PXDN, SLC4A11, TCF4, TGFBI, ZEB1, 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
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
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
GSN Amyloidosis, Finnish type
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
PAX6 Peters anomaly
Cataract with late-onset corneal dystrophy
Aniridia
Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome)
Optic nerve hypoplasia
Keratitis
Foveal hypoplasia 1
Coloboma, ocular
Morning glory disc anomaly
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PIKFYVE Corneal fleck dystrophy
PRDM5 Brittle cornea syndrome 2
PXDN Corneal opacification with other ocular anomalies
SLC4A11 Cryohydrocytosis
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
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
ZEB1 Corneal dystrophy, Fuchs endothelial 6
Corneal dystrophy, posterior polymorphous, 3
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 110
Number of Genes: 46

Export to: CSV

ABCA4
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 16441_s18 1 rs4847281
dbSNP Clinvar 		94578548 100.0 T C PASS 1/1 26 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%
View 16441_s18 1 rs1762114
dbSNP Clinvar 		94471075 100.0 A G PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 None None None None None None ABCA4|0.440503373|18.63%

ABCB5
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 16441_s18 7 rs10254317
dbSNP Clinvar 		20768013 100.0 G A PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.59605 0.59600 0.47801 None None None None None None ABCB5|0.12579132|46.5%

ABCC6
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 16441_s18 16 rs7500834
dbSNP Clinvar 		16272670 100.0 T C PASS 1/1 127 SYNONYMOUS_CODING LOW None 0.96446 0.96450 0.03548 None None None None None None ABCC6|0.022547171|72.9%
View 16441_s18 16 rs8058696
dbSNP Clinvar 		16278869 100.0 G C PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.33267 0.33270 0.45306 None None None None None None ABCC6|0.022547171|72.9%
View 16441_s18 16 rs9924755
dbSNP Clinvar 		16271409 100.0 G A PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.15156 0.15160 0.18816 None None None None None None ABCC6|0.022547171|72.9%
View 16441_s18 16 rs9930886
dbSNP Clinvar 		16291983 100.0 A G PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.28275 0.28270 0.31330 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 16441_s18 16 rs35296483
dbSNP Clinvar 		77327018 100.0 G A PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.12420 0.12420 0.09449 None None None None None None ADAMTS18|0.112557021|48.75%
View 16441_s18 16 rs8059275
dbSNP Clinvar 		77389956 100.0 A G PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.88219 0.88220 0.12527 None None None None None None ADAMTS18|0.112557021|48.75%
View 16441_s18 16 rs12935229
dbSNP Clinvar 		77328895 100.0 C T PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.09380 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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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 15 rs1367647
dbSNP Clinvar 		86940673 82.0 C T PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.11102 0.11100 0.10937 None None None None None None AGBL1|0.082073978|54.74%
View 16441_s18 15 rs4362360
dbSNP Clinvar 		86940622 100.0 T C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.74421 0.74420 0.39279 None None None None None None AGBL1|0.082073978|54.74%
View 16441_s18 15 rs9630451
dbSNP Clinvar 		86838497 100.0 C T PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.17851 0.17850 0.15089 None None None None None None AGBL1|0.082073978|54.74%
View 16441_s18 15 rs1006030
dbSNP Clinvar 		87531281 100.0 A C PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.19396 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 16441_s18 11 rs1800009
dbSNP Clinvar 		61730234 100.0 T C PASS 1/1 38 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 16441_s18 11 rs1109748
dbSNP Clinvar 		61722645 100.0 C A PASS 1/1 128 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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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 6 rs594012
dbSNP Clinvar 		75841722 100.0 A T PASS 1/1 20 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 16441_s18 10 rs2476958
dbSNP Clinvar 		105796819 100.0 A G PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.98602 0.98600 0.01377 None None None None None None COL17A1|0.220252717|34.39%
View 16441_s18 10 rs805701
dbSNP Clinvar 		105819956 100.0 G A PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.55252 0.55250 0.44480 None None None None None None COL17A1|0.220252717|34.39%
View 16441_s18 10 rs2296219
dbSNP Clinvar 		105799216 100.0 G T PASS 0/1 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 16441_s18 12 rs2276454
dbSNP Clinvar 		48376291 100.0 G A PASS 1/1 16 SYNONYMOUS_CODING LOW None 0.42971 0.42970 0.38682 None None None None None None COL2A1|0.956600158|2.04%
View 16441_s18 12 rs3737548
dbSNP Clinvar 		48391416 100.0 G T PASS 1/1 31 SYNONYMOUS_CODING LOW None 0.21925 0.21920 0.20145 None None None None None None COL2A1|0.956600158|2.04%
View 16441_s18 12 rs1635553
dbSNP Clinvar 		48375568 100.0 A G PASS 1/1 14 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.45279 None None None None None None COL2A1|0.956600158|2.04%

COL4A1
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 16441_s18 13 rs532625
dbSNP Clinvar 		110864225 100.0 A T PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.47284 0.47280 0.43957 None None None None None None COL4A1|0.224151486|33.94%
View 16441_s18 13 rs874203
dbSNP Clinvar 		110827574 100.0 T A PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.31789 0.31790 0.33592 None None None None None None COL4A1|0.224151486|33.94%
View 16441_s18 13 rs874204
dbSNP Clinvar 		110827580 100.0 C T PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.31809 0.31810 0.33592 None None None None None None COL4A1|0.224151486|33.94%
View 16441_s18 13 rs16975492
dbSNP Clinvar 		110833702 35.0 C T PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.30711 0.30710 0.32162 None None None None None None COL4A1|0.224151486|33.94%
View 16441_s18 13 rs61749897
dbSNP Clinvar 		110838814 100.0 A G PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.09625 0.09625 0.07120 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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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 13 rs4103
dbSNP Clinvar 		111098226 100.0 C T PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.48987 None None None None None None COL4A2|0.044971251|64.22%
View 16441_s18 13 rs445348
dbSNP Clinvar 		111158874 100.0 A G PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 16441_s18 13 rs4771683
dbSNP Clinvar 		111156499 100.0 C T PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View 16441_s18 13 rs438758
dbSNP Clinvar 		111155773 100.0 T C PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 16441_s18 13 rs409858
dbSNP Clinvar 		111154061 100.0 T C PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View 16441_s18 13 rs439831
dbSNP Clinvar 		111154058 100.0 T A PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
View 16441_s18 13 rs4238272
dbSNP Clinvar 		111077197 100.0 G A PASS 1/1 68 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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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 2 rs34019152
dbSNP Clinvar 		228131752 100.0 G A PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.10523 0.10520 0.06809 None None None None None None COL4A3|0.119573089|47.51%
View 16441_s18 2 rs10205042
dbSNP Clinvar 		228128540 100.0 C T PASS 1/1 52 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
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 2 rs10203363
dbSNP Clinvar 		227896976 100.0 C T PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.49501 0.49500 0.45120 None None None None None None COL4A4|0.099677436|51.24%
View 16441_s18 2 rs2228557
dbSNP Clinvar 		227872182 100.0 G A PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.51438 0.51440 0.46041 None None None None None None COL4A4|0.099677436|51.24%
View 16441_s18 2 rs2228555
dbSNP Clinvar 		227872995 100.0 T C PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.64058 0.64060 0.41430 None None None None None None COL4A4|0.099677436|51.24%
View 16441_s18 2 rs2229812
dbSNP Clinvar 		227896886 100.0 C T PASS 0/1 36 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
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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 16441_s18 9 rs3124299
dbSNP Clinvar 		137619195 100.0 C T PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.34265 0.34270 0.33215 None None None None None None COL5A1|0.207487878|35.85%
View 16441_s18 9 rs2228560
dbSNP Clinvar 		137711997 100.0 G C PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.01937 0.01937 0.42519 None None None None None None COL5A1|0.207487878|35.85%
View 16441_s18 9 rs753485525
dbSNP Clinvar 		137701115 100.0 C A PASS 0/1 34 SYNONYMOUS_CODING LOW None None None None None None None COL5A1|0.207487878|35.85%

COL5A2
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 16441_s18 2 rs4128539
dbSNP Clinvar 		189974958 100.0 G T PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.88858 0.88860 0.06005 None None None None None None COL5A2|0.575233366|12.81%
View 16441_s18 2 rs10197596
dbSNP Clinvar 		189904233 100.0 T G PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.11122 0.11120 0.09257 None None None None None None COL5A2|0.575233366|12.81%
View 16441_s18 2 rs2229495
dbSNP Clinvar 		189932831 100.0 T C PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.94289 0.94290 0.03737 None None None None None None COL5A2|0.575233366|12.81%
View 16441_s18 2 rs6434312
dbSNP Clinvar 		189907937 100.0 A G PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.02868 None None None None None None COL5A2|0.575233366|12.81%

COL6A1
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 16441_s18 21 rs1980982
dbSNP Clinvar 		47410931 100.0 T C PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.54493 0.54490 0.37606 None None None None None None COL6A1|0.085741402|53.99%

COL8A2
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 16441_s18 1 rs35495320
dbSNP Clinvar 		36563797 100.0 C T PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.18151 0.18150 0.02243 None None None None None None COL8A2|0.188633378|37.99%
View 16441_s18 1 rs57985157
dbSNP Clinvar 		36565739 100.0 C T PASS 0/1 53 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 16441_s18 4 rs3736456
dbSNP Clinvar 		187122355 100.0 T C PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.16274 0.16270 0.05697 None None None None None None CYP4V2|0.027940176|70.46%

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 16441_s18 1 rs189628587
dbSNP Clinvar 		47882605 100.0 C G PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.02276 0.02276 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 16441_s18 5 rs13158963
dbSNP Clinvar 		90449154 100.0 G A PASS 0/1 188 SYNONYMOUS_CODING LOW None 0.13818 0.13820 0.11756 None None None None None None ADGRV1|0.328571635|25.58%
View 16441_s18 5 rs3763073
dbSNP Clinvar 		90119293 100.0 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.08646 0.08646 0.00942 None None None None None None ADGRV1|0.328571635|25.58%

GSN
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 16441_s18 9 rs9102
dbSNP Clinvar 		124094800 100.0 T C PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.12440 0.12440 0.05413 None None None None None None GSN|0.728577212|7.7%

ITGB1
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 16441_s18 10 rs11009140
dbSNP Clinvar 		33200558 100.0 G A PASS 0/1 82 SYNONYMOUS_CODING LOW None 0.01138 0.01138 0.00038 None None None None None None ITGB1|0.816912657|5.38%
View 16441_s18 10 rs2298141
dbSNP Clinvar 		33214802 93.0 A G PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.15655 0.15650 0.13532 None None None None None None ITGB1|0.816912657|5.38%
View 16441_s18 10 rs2230396
dbSNP Clinvar 		33209266 100.0 G T PASS 1/1 51 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 12 rs2735333
dbSNP Clinvar 		91449990 100.0 C T PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.62001 0.62000 0.36689 None None None None None None KERA|0.287600325|28.54%
View 16441_s18 12 rs12320366
dbSNP Clinvar 		91449984 100.0 C T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.22564 0.22560 0.25254 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 16441_s18 17 rs8182306
dbSNP Clinvar 		39661689 100.0 G A PASS 1/1 35 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 17 rs4796681
dbSNP Clinvar 		39767744 100.0 A G PASS 1/1 120 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 17 rs8037
dbSNP Clinvar 		39081713 100.0 A G PASS 0/1 16 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 16441_s18 12 rs4432093
dbSNP Clinvar 		53186122 100.0 G A PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.78774 0.78770 0.18937 None None None None None None KRT3|0.041114774|65.41%

LOX
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 16441_s18 5 rs2278226
dbSNP Clinvar 		121413456 100.0 G C PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.00919 0.00919 None None None None None None LOX|0.986128219|1.23%

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 16441_s18 3 rs9844909
dbSNP Clinvar 		3887093 100.0 A G PASS 0/1 42 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 16441_s18 3 rs2120609
dbSNP Clinvar 		3887876 100.0 T C PASS 0/1 42 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 16441_s18 3 rs4685689
dbSNP Clinvar 		3886580 100.0 A G PASS 1/1 75 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 14 rs699374
dbSNP Clinvar 		74992800 100.0 A G PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.35335 None None None None None None LTBP2|0.184719306|38.39%
View 16441_s18 14 rs862031
dbSNP Clinvar 		74991855 100.0 A G PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.72824 0.72820 0.28618 None None None None None None LTBP2|0.184719306|38.39%

MTOR
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 16441_s18 1 rs1057079
dbSNP Clinvar 		11205058 100.0 C T PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.45410 None None None None None None MTOR|0.997612705|0.59%
View 16441_s18 1 rs1135172
dbSNP Clinvar 		11301714 100.0 A G PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.63958 0.63960 0.41466 None None None None None None MTOR|0.997612705|0.59%
View 16441_s18 1 rs1064261
dbSNP Clinvar 		11288758 100.0 G A PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.70048 0.70050 0.38244 None None None None None None MTOR|0.997612705|0.59%

MYLK
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 16441_s18 3 rs1254392
dbSNP Clinvar 		123368013 100.0 A G PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.39617 0.39620 0.22459 None None None None None None MYLK|0.503223171|15.7%
View 16441_s18 3 rs820463
dbSNP Clinvar 		123357037 100.0 A G PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.37440 0.37440 0.19791 None None None None None None MYLK|0.503223171|15.7%
View 16441_s18 3 rs40305
dbSNP Clinvar 		123411589 100.0 G A PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.33267 0.33270 0.43665 None None None None None None MYLK|0.503223171|15.7%
View 16441_s18 3 rs4678047
dbSNP Clinvar 		123452838 100.0 G A PASS 1/1 14 SYNONYMOUS_CODING LOW None 0.63279 0.63280 0.42565 None None None None None None MYLK|0.503223171|15.7%

NLRP1
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 16441_s18 17 rs884367
dbSNP Clinvar 		5487164 100.0 C G PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.28315 0.28310 0.12991 None None None None None None NLRP1|0.001451196|93.02%
View 16441_s18 17 rs74929853
dbSNP Clinvar 		5418107 100.0 G A PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.06969 0.06969 0.00146 None None None None None None NLRP1|0.001451196|93.02%
View 16441_s18 17 rs2301583
dbSNP Clinvar 		5424886 100.0 G A PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.00719 0.06889 None None None None None None NLRP1|0.001451196|93.02%

PAX6
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 16441_s18 11 rs771974160
dbSNP Clinvar 		31823265 100.0 T C PASS 0/1 56 SYNONYMOUS_CODING LOW None None None None None None None PAX6|0.995427329|0.78%

PIK3CG
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 16441_s18 7 rs849389
dbSNP Clinvar 		106508978 100.0 A G PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.08258 None None None None None None PIK3CG|0.990082262|1.08%
View 16441_s18 7 rs1129293
dbSNP Clinvar 		106513011 100.0 C T PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.25379 0.25380 0.23889 None None None None None None PIK3CG|0.990082262|1.08%
View 16441_s18 7 rs849390
dbSNP Clinvar 		106508987 100.0 T C PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.08127 None None None None None None PIK3CG|0.990082262|1.08%

PIK3R1
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 16441_s18 5 rs706713
dbSNP Clinvar 		67522722 100.0 C T PASS 0/1 29 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
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 2 rs994697
dbSNP Clinvar 		209215586 100.0 A G PASS 1/1 110 SYNONYMOUS_CODING LOW None 0.91114 0.91110 0.07812 None None None None None None PIKFYVE|0.407766308|20.32%
View 16441_s18 2 rs1529978
dbSNP Clinvar 		209191099 100.0 T C PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.99601 0.99600 0.00538 None None None None None None PIKFYVE|0.407766308|20.32%
View 16441_s18 2 rs10932259
dbSNP Clinvar 		209184999 100.0 C T PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.07787 None None None None None None PIKFYVE|0.407766308|20.32%
View 16441_s18 2 rs2304545
dbSNP Clinvar 		209212707 100.0 G A PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.71605 0.71610 0.31693 None None None None None None PIKFYVE|0.407766308|20.32%

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 16441_s18 4 rs12499000
dbSNP Clinvar 		121706201 100.0 A G PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.13738 0.13740 0.19983 None None None None None None PRDM5|0.189342478|37.9%

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 16441_s18 2 rs6730800
dbSNP Clinvar 		1647171 100.0 T C PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.90775 0.90770 0.13656 None None None None None None PXDN|0.054174855|61.43%
View 16441_s18 2 rs1863135
dbSNP Clinvar 		1652822 100.0 T G PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.93550 0.93550 0.10085 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 16441_s18 20 rs3803956
dbSNP Clinvar 		3214581 100.0 C T PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.16633 0.16630 0.18622 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 16441_s18 18 rs8766
dbSNP Clinvar 		52895531 100.0 T C PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.34245 0.34250 0.36468 None None None None None None TCF4|0.999272266|0.38%

TGFBI
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 16441_s18 5 rs4669
dbSNP Clinvar 		135392426 100.0 T C PASS 0/1 54 SYNONYMOUS_CODING LOW None 0.42053 0.42050 0.37555 None None None None None None TGFBI|0.999587957|0.3%
View 16441_s18 5 rs1054124
dbSNP Clinvar 		135388663 100.0 A G PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.38718 0.38720 0.34547 None None None None None None TGFBI|0.999587957|0.3%
View 16441_s18 5 rs1442
dbSNP Clinvar 		135382989 100.0 G C PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.31769 0.31770 0.34348 None None None None None None TGFBI|0.999587957|0.3%
View 16441_s18 5 rs1133170
dbSNP Clinvar 		135391374 100.0 C T PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.28015 0.28020 0.28005 None None None None None None TGFBI|0.999587957|0.3%

TLN1
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 16441_s18 9 rs11541908
dbSNP Clinvar 		35705759 100.0 G A PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.16913 0.16910 0.19683 None None None None None None TLN1|0.598640538|11.8%