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+ Genes 50

+ Genes associated with diseases 36

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL5A1, COL5A2, COL6A1, COL8A2, CYP4V2, FOXE3, IL1RN, KRT12, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, PRDM5, PXDN, SIX5, SLC4A11, TCF4, TGFBI, VSX1, 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)
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)
IL1RN {Gastric cancer risk after H. pylori infection}, 137215 (3)
{Microvascular complications of diabetes 4}, 612628 (3)
Interleukin 1 receptor antagonist deficiency, 612852 (3)
KRT12 Meesmann corneal dystrophy, 122100 (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)
PRDM5 Brittle cornea syndrome 2, 614170 (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)
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)
VSX1 Keratoconus 1, 148300 (3)
?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL5A1, COL5A2, COL6A1, COL8A2, CYP4V2, FOXE3, IL1RN, KRT12, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, PRDM5, PXDN, SIX5, SLC4A11, TCF4, TGFBI, VSX1, 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
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
IL1RN Osteomyelitis, sterile multifocal, with periostitis and pustulosis
KRT12 Meesmann corneal dystrophy
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
PRDM5 Brittle cornea syndrome 2
PXDN Corneal opacification with other ocular anomalies
SIX5 Branchiootorenal syndrome 2
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
VSX1 Craniofacial anomalies and anterior segment dysgenesis syndrome
Keratoconus 1
Corneal dystrophy, posterior polymorphous
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 625
Number of Genes: 50

Export to: CSV
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 6424_s25 14 . 74973579 100.0 TGT CGC PASS 1/1 98 None None None None None None None None None LTBP2|0.184719306|38.39%
View 6424_s25 2 . 1642537 100.0 TGC CGT PASS 1/1 73 None None None None None None None None None PXDN|0.054174855|61.43%
View 6424_s25 9 . 137645648 100.0 TC CT PASS 0/1 54 None None None None None None None None None COL5A1|0.207487878|35.85%
View 6424_s25 4 rs34444497
dbSNP Clinvar 		121631395 61.0 TAC T PASS 0/1 30 None None None 0.05052 0.05052 None None None None None None PRDM5|0.189342478|37.9%
View 6424_s25 16 rs112943550
dbSNP Clinvar 		77359569 100.0 TA T PASS 0/1 40 None None None 0.16534 0.16530 None None None None None None ADAMTS18|0.112557021|48.75%

COL4A2
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 6424_s25 13 rs409858
dbSNP Clinvar 		111154061 100.0 T C PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs439831
dbSNP Clinvar 		111154058 100.0 T A PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
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 6424_s25 2 rs59443812,rs397724904
dbSNP Clinvar 		227966298 100.0 T TA PASS 0/1 69 None None None 0.53534 0.53530 None None None None None None COL4A4|0.099677436|51.24%

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 6424_s25 16 rs12918876
dbSNP Clinvar 		88496008 100.0 T C PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.60443 0.60440 None None None None None None ZNF469|0.000923153|95.92%
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 6424_s25 13 rs1983930
dbSNP Clinvar 		111137167 100.0 T C PASS 1/1 61 None None None 0.99661 0.99660 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs3803228
dbSNP Clinvar 		111134858 100.0 T C PASS 0/1 46 None None None 0.19090 0.19090 0.19202 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 2 rs432014
dbSNP Clinvar 		113888579 100.0 T C PASS 1/1 41 None None None 0.22105 0.22100 0.23658 None None None None None None IL1RN|0.11539686|48.22%

BEST1
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 6424_s25 11 rs1800009
dbSNP Clinvar 		61730234 100.0 T C PASS 0/1 57 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%
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 6424_s25 9 rs306785
dbSNP Clinvar 		124073176 100.0 T C PASS 1/1 59 None None None 0.88898 0.88900 None None None None None None GSN|0.728577212|7.7%
View 6424_s25 1 rs2297634
dbSNP Clinvar 		94576968 100.0 T C PASS 1/1 45 None None None 0.54693 0.54690 0.47309 None None None None None None ABCA4|0.440503373|18.63%
View 6424_s25 13 rs3803231
dbSNP Clinvar 		111119342 100.0 T C PASS 0/1 49 None None None 0.10523 0.10520 0.10563 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 9 rs306769
dbSNP Clinvar 		124088768 100.0 T C PASS 1/1 59 None None None 0.90535 0.90540 0.16385 None None None None None None GSN|0.728577212|7.7%
View 6424_s25 1 rs7524202
dbSNP Clinvar 		11297762 100.0 T C PASS 1/1 46 None None None 0.70088 0.70090 None None None None None None MTOR|0.997612705|0.59%
View 6424_s25 13 rs11411440,rs397934607
dbSNP Clinvar 		99537790 100.0 T TA PASS 0/1 54 None None None 0.48982 0.48980 None None None None None None DOCK9|0.3175759|26.27%

ABCA4
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 6424_s25 1 rs4847281
dbSNP Clinvar 		94578548 100.0 T C PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%

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 6424_s25 16 rs12445417
dbSNP Clinvar 		88498297 100.0 T G PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.84645 0.84640 0.16032 None None None None None None ZNF469|0.000923153|95.92%

COL17A1
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 6424_s25 10 rs2274100
dbSNP Clinvar 		105798872 100.0 T C PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.68151 0.68150 0.27749 None None None None None None COL17A1|0.220252717|34.39%
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 6424_s25 13 rs4771678
dbSNP Clinvar 		111076940 100.0 T C PASS 0/1 96 None None None 0.73103 0.73100 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 2 rs10933172
dbSNP Clinvar 		228121147 80.0 T G PASS 0/1 14 None None None 0.08027 0.08027 0.10250 None None None None None None COL4A3|0.119573089|47.51%

KRT15
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 6424_s25 17 rs1050784
dbSNP Clinvar 		39674641 100.0 T C PASS 0/1 40 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%

IL1RN
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 6424_s25 2 rs419598
dbSNP Clinvar 		113887207 100.0 T C PASS 1/1 138 SYNONYMOUS_CODING LOW None 0.19169 0.19170 0.20614 None None None None None None IL1RN|0.11539686|48.22%
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 6424_s25 20 rs11431377,rs11427085
dbSNP Clinvar 		25057191 100.0 T TA PASS 0/1 69 None None None 0.23083 0.23080 None None None None None None VSX1|0.019829989|74.27%

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 6424_s25 16 rs9924504
dbSNP Clinvar 		88497031 100.0 T C PASS 1/1 37 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None ZNF469|0.000923153|95.92%

COL2A1
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 6424_s25 12 rs3803183
dbSNP Clinvar 		48398080 100.0 T A PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.68530 0.68530 0.21085 0.18 0.00 None None None None None None COL2A1|0.956600158|2.04%

PRDM5
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 6424_s25 4 rs343192
dbSNP Clinvar 		121738049 100.0 T C PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.27496 0.27500 0.28126 None None None None None None PRDM5|0.189342478|37.9%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 2 rs16065
dbSNP Clinvar 		113875631 100.0 T C PASS 1/1 51 None None None 0.18570 0.18570 0.19399 None None None None None None IL1RN|0.11539686|48.22%
View 6424_s25 9 rs3109675
dbSNP Clinvar 		137623555 100.0 T C PASS 1/1 38 None None None 0.41933 0.41930 0.37982 None None None None None None COL5A1|0.207487878|35.85%
View 6424_s25 2 rs7596571
dbSNP Clinvar 		209201739 100.0 T C PASS 1/1 77 None None None 0.98303 0.98300 None None None None None None PIKFYVE|0.407766308|20.32%
View 6424_s25 9 rs3128612
dbSNP Clinvar 		137630587 100.0 T C PASS 0/1 62 None None None 0.56929 0.56930 0.40866 None None None None None None COL5A1|0.207487878|35.85%

VSX1
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 6424_s25 20 rs12480307
dbSNP Clinvar 		25059546 100.0 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.29034 0.29030 0.29948 None None None None None None VSX1|0.019829989|74.27%
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 6424_s25 13 rs995223
dbSNP Clinvar 		110851036 100.0 T C PASS 0/1 98 None None None 0.27576 0.27580 None None None None None None COL4A1|0.224151486|33.94%
View 6424_s25 9 rs12686426
dbSNP Clinvar 		137642577 100.0 T C PASS 0/1 67 None None None 0.21026 0.21030 None None None None None None COL5A1|0.207487878|35.85%
View 6424_s25 13 rs683309
dbSNP Clinvar 		110850770 100.0 T C PASS 1/1 94 None None None 0.90136 0.90140 0.13253 None None None None None None COL4A1|0.224151486|33.94%

COL17A1
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 6424_s25 10 rs805722
dbSNP Clinvar 		105810400 100.0 T C PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.69369 0.69370 0.28095 0.64 0.00 None None None None None None COL17A1|0.220252717|34.39%

COL4A1
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 6424_s25 13 rs1373744
dbSNP Clinvar 		110843985 100.0 T C PASS 1/1 114 None None None 0.91613 0.91610 None None None None None None COL4A1|0.224151486|33.94%
View 6424_s25 13 rs536174
dbSNP Clinvar 		110839550 100.0 T G PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
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 6424_s25 13 rs2305080
dbSNP Clinvar 		110838703 100.0 T C PASS 0/1 46 None None None 0.36062 0.36060 0.34952 None None None None None None COL4A1|0.224151486|33.94%
View 6424_s25 17 rs7211835
dbSNP Clinvar 		39659529 100.0 T C PASS 0/1 48 None None None 0.82109 0.82110 0.16654 None None None None None None KRT13|0.071438602|57.11%

KRT13
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 6424_s25 17 rs4796697
dbSNP Clinvar 		39659194 100.0 T C PASS 0/1 145 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%
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 6424_s25 13 rs503053
dbSNP Clinvar 		110831451 100.0 T C PASS 0/1 103 None None None 0.39836 0.39840 None None None None None None COL4A1|0.224151486|33.94%
View 6424_s25 2 rs12621551
dbSNP Clinvar 		228118403 100.0 T G PASS 0/1 32 None None None 0.78694 0.78690 0.22747 None None None None None None COL4A3|0.119573089|47.51%
View 6424_s25 13 rs1975514
dbSNP Clinvar 		110828891 100.0 T C PASS 0/1 143 None None None 0.32029 0.32030 0.33608 None None None None None None COL4A1|0.224151486|33.94%

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 6424_s25 2 rs1863135
dbSNP Clinvar 		1652822 100.0 T G PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.93550 0.93550 0.10085 None None None None None None PXDN|0.054174855|61.43%

COL4A1
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 6424_s25 13 rs874203
dbSNP Clinvar 		110827574 100.0 T A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.31789 0.31790 0.33592 None None None None None None COL4A1|0.224151486|33.94%

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 6424_s25 2 rs1529978
dbSNP Clinvar 		209191099 100.0 T C PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.99601 0.99600 0.00538 None None None None None None PIKFYVE|0.407766308|20.32%
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 6424_s25 7 rs1800793
dbSNP Clinvar 		81346685 100.0 T C PASS 1/1 34 None None None 0.79832 0.79830 0.24696 None None None None None None HGF|0.997497848|0.6%

COL4A1
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 6424_s25 13 rs3742207
dbSNP Clinvar 		110818598 100.0 T G PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.28834 0.28830 0.32124 0.25 None None None None None None COL4A1|0.224151486|33.94%

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 6424_s25 2 rs6730800
dbSNP Clinvar 		1647171 100.0 T C PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.90775 0.90770 0.13656 None None None None None None PXDN|0.054174855|61.43%
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 6424_s25 13 rs7995432
dbSNP Clinvar 		99573165 100.0 T C PASS 0/1 67 None None None 0.08067 0.08067 0.07307 None None None None None None DOCK9|0.3175759|26.27%

LRRN1
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 6424_s25 3 rs2120609
dbSNP Clinvar 		3887876 100.0 T C PASS 0/1 58 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%
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 6424_s25 1 rs17235654
dbSNP Clinvar 		11174331 100.0 T C PASS 0/1 77 None None None 0.10463 0.10460 0.05920 None None None None None None MTOR|0.997612705|0.59%

ANGPTL7
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 6424_s25 1 rs2076658
dbSNP Clinvar 		11255008 100.0 T C PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.09844 0.09844 0.05105 None None None None None None MTOR|0.997612705|0.59%,ANGPTL7|0.164614125|40.97%
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 6424_s25 7 rs12669866
dbSNP Clinvar 		20782474 100.0 T C PASS 1/1 43 None None None 0.54333 0.54330 0.49300 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 rs12669400
dbSNP Clinvar 		20782319 100.0 T C PASS 1/1 43 None None None 0.79433 0.79430 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 21 rs2839077
dbSNP Clinvar 		47417303 100.0 T C PASS 1/1 24 None None None 0.51158 0.51160 0.47278 None None None None None None COL6A1|0.085741402|53.99%

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 6424_s25 2 rs999890
dbSNP Clinvar 		209190632 100.0 T G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.09904 0.09904 0.14117 0.16 0.06 None None None None None None PIKFYVE|0.407766308|20.32%
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 6424_s25 16 rs2434895
dbSNP Clinvar 		77401684 100.0 T G PASS 0/1 124 None None None 0.28455 0.28450 None None None None None None ADAMTS18|0.112557021|48.75%

COL4A3
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 6424_s25 2 rs10178458
dbSNP Clinvar 		228111435 100.0 T C PASS 1/1 45 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%
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 6424_s25 7 rs11764760
dbSNP Clinvar 		20721084 100.0 T C PASS 0/1 137 None None None 0.18830 0.18830 0.18684 None None None None None None ABCB5|0.12579132|46.5%

KRT23
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 6424_s25 17 rs9257
dbSNP Clinvar 		39084504 100.0 T C PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.58327 0.58330 0.45002 1.00 0.00 None None None None None None KRT23|0.054190188|61.41%
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 6424_s25 7 rs12700227
dbSNP Clinvar 		20698602 100.0 T C PASS 0/1 72 None None None 0.12320 0.12320 0.11191 None None None None None None ABCB5|0.12579132|46.5%

PIKFYVE
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 6424_s25 2 rs2363468
dbSNP Clinvar 		209190330 100.0 T C PASS 1/1 60 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%
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 6424_s25 1 rs12132215
dbSNP Clinvar 		11298739 100.0 T C PASS 0/1 147 None None None 0.08706 0.08706 None None None None None None MTOR|0.997612705|0.59%
View 6424_s25 7 rs3213622
dbSNP Clinvar 		20690885 100.0 T C PASS 0/1 102 None None None 0.34046 0.34050 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 rs11983326
dbSNP Clinvar 		20685508 100.0 T G PASS 0/1 100 None None None 0.32228 0.32230 0.35155 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 1 rs6666370
dbSNP Clinvar 		47883019 100.0 T C PASS 1/1 67 None None None 0.79693 0.79690 None None None None None None FOXE3|0.032576489|68.36%

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 6424_s25 17 rs4968281
dbSNP Clinvar 		44950122 100.0 T C PASS 1/1 81 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%

COL4A2
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 6424_s25 13 rs438758
dbSNP Clinvar 		111155773 100.0 T C PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
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 6424_s25 X rs6622333
dbSNP Clinvar 		107819223 100.0 T C PASS 1/1 72 None None None 0.32477 0.32480 0.14412 None None None None None None COL4A5|0.684108995|8.97%
View 6424_s25 2 rs4666770
dbSNP Clinvar 		189899541 100.0 T C PASS 0/1 90 None None None 0.84485 0.84480 None None None None None None COL5A2|0.575233366|12.81%
View 6424_s25 3 rs3749351
dbSNP Clinvar 		3886180 100.0 T C PASS 1/1 57 START_GAINED LOW None 0.69768 0.69770 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 6424_s25 4 rs1511309
dbSNP Clinvar 		121720771 100.0 T C PASS 0/1 53 None None None 0.27356 0.27360 0.27705 None None None None None None PRDM5|0.189342478|37.9%
View 6424_s25 14 rs699371
dbSNP Clinvar 		74989433 100.0 T C PASS 1/1 78 None None None 0.73642 0.73640 None None None None None None LTBP2|0.184719306|38.39%
View 6424_s25 13 rs772306
dbSNP Clinvar 		99460173 100.0 T A PASS 0/1 61 None None None 0.17951 0.17950 None None None None None None DOCK9|0.3175759|26.27%
View 6424_s25 13 rs1290519
dbSNP Clinvar 		99462609 100.0 T C PASS 0/1 72 None None None 0.18870 0.18870 None None None None None None DOCK9|0.3175759|26.27%
View 6424_s25 3 rs528233991
dbSNP Clinvar 		123332879 100.0 T G PASS 0/1 68 None None None None None None None None None MYLK|0.503223171|15.7%
View 6424_s25 14 rs60130392
dbSNP Clinvar 		74973581 100.0 T C PASS 1/. 97 None None None 0.43091 0.43090 None None None None None None LTBP2|0.184719306|38.39%
View 6424_s25 16 rs1948719
dbSNP Clinvar 		77398081 100.0 T C PASS 0/1 137 None None None 0.29333 0.29330 0.40482 None None None None None None ADAMTS18|0.112557021|48.75%

TCF4
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 6424_s25 18 rs8766
dbSNP Clinvar 		52895531 100.0 T C PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.34245 0.34250 0.36468 None None None None None None TCF4|0.999272266|0.38%
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 6424_s25 13 rs2479426
dbSNP Clinvar 		111164198 100.0 T C PASS 0/1 46 None None None 0.50379 0.50380 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 9 rs2295797
dbSNP Clinvar 		35722282 100.0 T C PASS 0/1 53 None None None 0.20587 0.20590 None None None None None None TLN1|0.598640538|11.8%
View 6424_s25 2 rs7420715
dbSNP Clinvar 		189899572 100.0 T C PASS 0/1 90 None None None 0.84485 0.84480 None None None None None None COL5A2|0.575233366|12.81%
View 6424_s25 16 rs8056103
dbSNP Clinvar 		16280921 100.0 T C PASS 1/1 33 None None None 0.00240 0.00240 None None None None None None ABCC6|0.022547171|72.9%

CYP4V2
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 6424_s25 4 rs3736456
dbSNP Clinvar 		187122355 100.0 T C PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.16274 0.16270 0.05697 None None None None None None CYP4V2|0.027940176|70.46%
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 6424_s25 6 rs2300794
dbSNP Clinvar 		75857293 100.0 T C PASS 0/1 87 None None None 0.04233 0.04233 None None None None None None COL12A1|0.494206072|16.13%
View 6424_s25 1 rs1518111
dbSNP Clinvar 		206944645 100.0 T C PASS 0/1 64 None None None 0.57308 0.57310 0.26741 None None None None None None IL10|0.653335058|9.97%

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 6424_s25 16 rs7500834
dbSNP Clinvar 		16272670 100.0 T C PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.96446 0.96450 0.03548 None None None None None None ABCC6|0.022547171|72.9%

PXN
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 6424_s25 12 rs4767884
dbSNP Clinvar 		120661977 100.0 T C PASS 1/1 86 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%

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 6424_s25 16 rs6416668
dbSNP Clinvar 		16271357 100.0 T C PASS 1/1 73 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%

PIK3CG
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 6424_s25 7 rs849390
dbSNP Clinvar 		106508987 100.0 T C PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.08127 None None None None None None PIK3CG|0.990082262|1.08%

KRT24
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 6424_s25 17 rs2462961
dbSNP Clinvar 		38855772 100.0 T C PASS 0/1 118 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%
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 6424_s25 16 rs3213473
dbSNP Clinvar 		16256767 100.0 T G PASS 1/1 73 None None None 0.00499 0.00499 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 2 rs113250005,rs779551370,rs67838836
dbSNP Clinvar 		209182499 100.0 T TA PASS 0/1 46 None None None 0.11641 0.11640 None None None None None None PIKFYVE|0.407766308|20.32%
View 6424_s25 16 rs212097
dbSNP Clinvar 		16244129 100.0 T C PASS 1/1 67 None None None 0.28175 0.28170 0.35206 None None None None None None ABCC6|0.022547171|72.9%

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 6424_s25 10 rs17116350
dbSNP Clinvar 		105793750 100.0 T C PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.25859 0.25860 0.29025 1.00 0.00 None None None None None None COL17A1|0.220252717|34.39%