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+ Genes 52

+ Genes associated with diseases 37

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, COL5A2, COL6A1, COL8A2, CYP4V2, FOXE3, IL1RN, KERA, KRT12, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, PRDM5, PXDN, SIX5, 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)
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)
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)
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)
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, COL4A4, COL5A1, COL5A2, COL6A1, COL8A2, CYP4V2, FOXE3, IL1RN, KERA, KRT12, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, PRDM5, PXDN, SIX5, 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
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
IL1RN Osteomyelitis, sterile multifocal, with periostitis and pustulosis
KERA Cornea plana 2, autosomal recessive
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
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: 583
Number of Genes: 52

Export to: CSV

ABCC6
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 6343_s27 16 rs376219152
dbSNP Clinvar 		16313411 100.0 C T PASS 0/1 31 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None ABCC6|0.022547171|72.9%
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 6343_s27 11 rs3026393
dbSNP Clinvar 		31812215 100.0 A C PASS 0/1 19 None None None 0.00040 0.45430 0.44701 None None None None None None PAX6|0.995427329|0.78%
View 6343_s27 1 rs538377160
dbSNP Clinvar 		11172778 100.0 A G PASS 0/1 41 None None None 0.00080 0.00080 None None None None None None MTOR|0.997612705|0.59%
View 6343_s27 12 rs529657632
dbSNP Clinvar 		120652855 100.0 C T PASS 0/1 69 None None None 0.00080 0.00080 None None None None None None PXN|0.716901595|8.07%

COL4A4
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 6343_s27 2 rs190148408
dbSNP Clinvar 		227872783 100.0 G C PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00247 0.85 0.65 None None None None None None COL4A4|0.099677436|51.24%
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 6343_s27 17 rs575738077
dbSNP Clinvar 		5442685 100.0 AC A PASS 0/1 21 None None None 0.00140 0.00140 0.00312 None None None None None None NLRP1|0.001451196|93.02%
View 6343_s27 5 rs10068473
dbSNP Clinvar 		89990545 100.0 C A PASS 1/1 24 None None None 0.00140 0.64720 0.45261 None None None None None None ADGRV1|0.328571635|25.58%

COL6A1
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 6343_s27 21 rs150686304
dbSNP Clinvar 		47404304 100.0 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00039 0.00 1.00 None None None None None None COL6A1|0.085741402|53.99%
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 6343_s27 8 rs3835176,rs398010096
dbSNP Clinvar 		141669818 100.0 AT A PASS 1/1 61 None None None 0.00200 0.75580 None None None None None None PTK2|0.369628478|22.73%
View 6343_s27 16 rs8056103
dbSNP Clinvar 		16280921 100.0 T C PASS 1/1 29 None None None 0.00240 0.00240 None None None None None None ABCC6|0.022547171|72.9%
View 6343_s27 12 rs375546455
dbSNP Clinvar 		48370380 100.0 G A PASS 0/1 76 None None None 0.00260 0.00260 None None None None None None COL2A1|0.956600158|2.04%
View 6343_s27 2 rs138326711
dbSNP Clinvar 		189916845 100.0 G A PASS 0/1 48 None None None 0.00260 0.00260 0.00438 None None None None None None COL5A2|0.575233366|12.81%

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 6343_s27 17 rs535020030
dbSNP Clinvar 		39659217 100.0 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.00399 0.00399 0.03 0.31 None None None None None None KRT13|0.071438602|57.11%
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 6343_s27 16 rs3213473
dbSNP Clinvar 		16256767 100.0 T A,G PASS 1/2 55 None None None 0.00499 0.00499 None None None None None None ABCC6|0.022547171|72.9%
View 6343_s27 16 rs111339199
dbSNP Clinvar 		16313398 100.0 C T PASS 0/1 32 None None None 0.00539 0.00539 0.00837 None None None None None None ABCC6|0.022547171|72.9%
View 6343_s27 21 rs2236489
dbSNP Clinvar 		47423133 100.0 C G PASS 0/1 43 None None None 0.00539 0.82030 0.17981 None None None None None None COL6A1|0.085741402|53.99%
View 6343_s27 17 rs371579423
dbSNP Clinvar 		5424746 100.0 C T PASS 0/1 25 None None None 0.00639 0.00639 None None None None None None NLRP1|0.001451196|93.02%
View 6343_s27 1 rs115587781
dbSNP Clinvar 		154943024 100.0 G A PASS 0/1 16 None None None 0.00859 0.00859 0.00725 None None None None None None SHC1|0.69492859|8.65%

ABCC6
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 6343_s27 16 rs41278174
dbSNP Clinvar 		16259596 100.0 G A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.01158 0.01158 0.01747 0.00 0.94 None None None None None None ABCC6|0.022547171|72.9%

DOCK9
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 6343_s27 13 rs75205686
dbSNP Clinvar 		99554548 100.0 C T PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.01338 0.01338 0.00994 None None None None None None DOCK9|0.3175759|26.27%
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 6343_s27 13 rs77622402
dbSNP Clinvar 		110861805 100.0 A G PASS 1/1 99 None None None 0.01597 0.01597 0.00015 None None None None None None COL4A1|0.224151486|33.94%
View 6343_s27 13 rs9588116
dbSNP Clinvar 		110859069 100.0 G C PASS 1/1 57 None None None 0.01637 0.37000 0.39897 None None None None None None COL4A1|0.224151486|33.94%
View 6343_s27 13 rs138091360
dbSNP Clinvar 		99535262 100.0 C T PASS 0/1 37 None None None 0.01677 0.01677 0.00486 None None None None None None DOCK9|0.3175759|26.27%

AGBL1
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 6343_s27 15 rs144777747
dbSNP Clinvar 		87066168 64.0 G A PASS 0/1 14 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01737 0.01737 0.01182 0.14 0.13 None None None None None None AGBL1|0.082073978|54.74%
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 6343_s27 15 rs62012445
dbSNP Clinvar 		86687116 100.0 C T PASS 0/1 35 None None None 0.02416 0.02416 0.02908 None None None None None None AGBL1|0.082073978|54.74%
View 6343_s27 15 rs62012444
dbSNP Clinvar 		86687082 100.0 C A PASS 0/1 35 None None None 0.02556 0.02556 0.03061 None None None None None None AGBL1|0.082073978|54.74%
View 6343_s27 9 rs150200872
dbSNP Clinvar 		137620501 100.0 G A PASS 1/1 34 None None None 0.03115 0.03115 0.00669 None None None None None None COL5A1|0.207487878|35.85%

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 6343_s27 17 rs34861030
dbSNP Clinvar 		39092735 100.0 C A PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.03395 0.03395 0.01007 0.48 0.00 None None None None None None KRT23|0.054190188|61.41%
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 6343_s27 21 rs7276098
dbSNP Clinvar 		47420726 100.0 C G PASS 0/1 42 None None None 0.03614 0.83030 0.13332 None None None None None None COL6A1|0.085741402|53.99%
View 6343_s27 9 rs116164506
dbSNP Clinvar 		137619006 100.0 G A PASS 0/1 75 None None None 0.04373 0.04373 None None None None None None COL5A1|0.207487878|35.85%
View 6343_s27 13 rs74124618
dbSNP Clinvar 		111132522 100.0 G A PASS 0/1 26 None None None 0.04573 0.04573 0.02252 None None None None None None COL4A2|0.044971251|64.22%
View 6343_s27 7 rs76859629
dbSNP Clinvar 		20671782 100.0 T G PASS 0/1 33 None None None 0.05032 0.05032 0.04562 None None None None None None ABCB5|0.12579132|46.5%
View 6343_s27 9 rs16910509
dbSNP Clinvar 		124083471 100.0 C T PASS 0/1 65 None None None 0.06230 0.06230 None None None None None None GSN|0.728577212|7.7%
View 6343_s27 2 rs73051214
dbSNP Clinvar 		189962098 100.0 T C PASS 0/1 48 None None None 0.06550 0.06550 0.04244 None None None None None None COL5A2|0.575233366|12.81%
View 6343_s27 16 rs78600508
dbSNP Clinvar 		88505786 100.0 C A PASS 0/1 25 None None None 0.07528 0.07528 0.07504 None None None None None None ZNF469|0.000923153|95.92%

SFTPD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6343_s27 10 rs3088308
dbSNP Clinvar 		81697868 100.0 A T PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.08247 0.08247 0.05582 0.12 0.01 None None None None None None SFTPD|0.023000884|72.72%
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 6343_s27 5 rs6878257
dbSNP Clinvar 		140898604 100.0 G A PASS 0/1 46 None None None 0.08387 0.08387 None None None None None None DIAPH1|0.460968984|17.63%
View 6343_s27 13 rs10492497
dbSNP Clinvar 		110831866 100.0 T C PASS 0/1 54 None None None 0.08766 0.08766 None None None None None None COL4A1|0.224151486|33.94%
View 6343_s27 1 rs181190356
dbSNP Clinvar 		47881974 100.0 G A PASS 0/1 21 None None None 0.08866 0.08866 None None None None None None FOXE3|0.032576489|68.36%
View 6343_s27 2 rs12612699
dbSNP Clinvar 		228112439 100.0 C T PASS 0/1 20 None None None 0.08886 0.08886 None None None None None None COL4A3|0.119573089|47.51%
View 6343_s27 3 rs820329
dbSNP Clinvar 		123444785 100.0 A T PASS 0/1 42 None None None 0.09225 0.09225 0.17430 None None None None None None MYLK|0.503223171|15.7%

COL4A1
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 6343_s27 13 rs61749897
dbSNP Clinvar 		110838814 100.0 A G PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.09625 0.09625 0.07120 None None None None None None COL4A1|0.224151486|33.94%

COL8A2
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 6343_s27 1 rs57985157
dbSNP Clinvar 		36565739 100.0 C T PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.09665 0.09665 0.01153 None None None None None None COL8A2|0.188633378|37.99%
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 6343_s27 10 rs17821926
dbSNP Clinvar 		105815116 100.0 A G PASS 0/1 20 None None None 0.09964 0.09964 0.11741 None None None None None None COL17A1|0.220252717|34.39%

COL4A2
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 6343_s27 13 rs391859
dbSNP Clinvar 		111160304 100.0 G A PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.10084 0.10080 0.08723 None None None None None None COL4A2|0.044971251|64.22%

BEST1
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 6343_s27 11 rs1800008
dbSNP Clinvar 		61730183 100.0 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.10144 0.10140 0.17051 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%

ABCB5
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 6343_s27 7 rs34603556
dbSNP Clinvar 		20691047 100.0 T C PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.10164 0.10160 0.15485 1.00 0.00 None None None None None None ABCB5|0.12579132|46.5%

COL5A1
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 6343_s27 9 rs41306391
dbSNP Clinvar 		137622249 100.0 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.10184 0.10180 0.08158 None None None None None None COL5A1|0.207487878|35.85%
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 6343_s27 2 rs3769641
dbSNP Clinvar 		227922321 100.0 A G PASS 0/1 33 None None None 0.10304 0.10300 0.07410 None None None None None None COL4A4|0.099677436|51.24%

BEST1
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 6343_s27 11 rs17185413
dbSNP Clinvar 		61730553 100.0 T C PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.10443 0.10440 0.19076 0.00 0.00 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%
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 6343_s27 12 rs11834139
dbSNP Clinvar 		53184559 100.0 C T PASS 0/1 60 None None None 0.10523 0.10520 0.18835 None None None None None None KRT3|0.041114774|65.41%
View 6343_s27 10 rs4587680
dbSNP Clinvar 		33200782 100.0 C T PASS 0/1 27 None None None 0.10523 0.10520 0.07466 None None None None None None ITGB1|0.816912657|5.38%
View 6343_s27 2 rs2272205
dbSNP Clinvar 		227915924 100.0 T C PASS 0/1 48 None None None 0.10603 0.10600 0.07982 None None None None None None COL4A4|0.099677436|51.24%

TLN1
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 6343_s27 9 rs10814270
dbSNP Clinvar 		35704150 100.0 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.11701 0.11700 0.04167 None None None None None None TLN1|0.598640538|11.8%
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 6343_s27 13 rs2296853
dbSNP Clinvar 		111137240 100.0 A G PASS 0/1 29 None None None 0.12580 0.12580 0.13124 None None None None None None COL4A2|0.044971251|64.22%
View 6343_s27 21 rs62215496
dbSNP Clinvar 		47402334 100.0 C T PASS 0/1 32 None None None 0.13459 0.13460 None None None None None None COL6A1|0.085741402|53.99%
View 6343_s27 4 rs3761721
dbSNP Clinvar 		121702270 100.0 T C PASS 0/1 29 None None None 0.13698 0.13700 0.19852 None None None None None None PRDM5|0.189342478|37.9%
View 6343_s27 4 rs12507359
dbSNP Clinvar 		121719307 100.0 A T PASS 0/1 32 None None None 0.13718 0.13720 None None None None None None PRDM5|0.189342478|37.9%

PRDM5
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 6343_s27 4 rs12499000
dbSNP Clinvar 		121706201 100.0 A G PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.13738 0.13740 0.19983 None None None None None None PRDM5|0.189342478|37.9%
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 6343_s27 7 rs7807360
dbSNP Clinvar 		20698077 100.0 C G PASS 0/1 41 None None None 0.13818 0.13820 0.19550 None None None None None None ABCB5|0.12579132|46.5%
View 6343_s27 12 rs28776777
dbSNP Clinvar 		91450082 100.0 C A PASS 0/1 42 None None None 0.13938 0.13940 0.08139 None None None None None None KERA|0.287600325|28.54%
View 6343_s27 4 rs66792327
dbSNP Clinvar 		121719584 100.0 T TA PASS 0/1 23 None None None 0.14657 0.14660 0.21037 None None None None None None PRDM5|0.189342478|37.9%
View 6343_s27 2 rs58663889
dbSNP Clinvar 		135756265 100.0 G T PASS 0/1 61 None None None 0.14697 0.14700 0.08323 None None None None None None MAP3K19|0.070109416|57.46%
View 6343_s27 13 rs9513522
dbSNP Clinvar 		99630263 93.0 G A PASS 0/1 16 None None None 0.16034 0.16030 None None None None None None DOCK9|0.3175759|26.27%
View 6343_s27 12 rs10875716
dbSNP Clinvar 		48389023 100.0 C T PASS 0/1 52 None None None 0.16074 0.16070 0.26765 None None None None None None COL2A1|0.956600158|2.04%

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 6343_s27 4 rs3736456
dbSNP Clinvar 		187122355 100.0 T C PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.16274 0.16270 0.05697 None None None None None None CYP4V2|0.027940176|70.46%
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 6343_s27 13 rs2296986
dbSNP Clinvar 		99483856 90.0 C T PASS 0/1 18 None None None 0.16633 0.16630 0.16540 None None None None None None DOCK9|0.3175759|26.27%
View 6343_s27 14 rs2286411
dbSNP Clinvar 		74972942 100.0 G A PASS 0/1 35 None None None 0.16973 0.16970 0.13560 None None None None None None LTBP2|0.184719306|38.39%
View 6343_s27 13 rs61040361
dbSNP Clinvar 		99460127 100.0 G A PASS 0/1 45 None None None 0.17432 0.17430 None None None None None None DOCK9|0.3175759|26.27%

SFTPD
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 6343_s27 10 rs1051246
dbSNP Clinvar 		81697818 100.0 A G PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.17452 0.17450 0.16792 None None None None None None SFTPD|0.023000884|72.72%
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 6343_s27 13 rs772306
dbSNP Clinvar 		99460173 100.0 T A PASS 0/1 44 None None None 0.17951 0.17950 None None None None None None DOCK9|0.3175759|26.27%

ABCC6
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 6343_s27 16 rs2238472
dbSNP Clinvar 		16251599 100.0 C T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.18131 0.18130 0.22395 0.18 0.01 None None None None None None ABCC6|0.022547171|72.9%

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 6343_s27 1 rs35495320
dbSNP Clinvar 		36563797 100.0 C T PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.18151 0.18150 0.02243 None None None None None None COL8A2|0.188633378|37.99%

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 6343_s27 17 rs2301582
dbSNP Clinvar 		5436263 100.0 C T PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.18431 0.18430 0.30663 0.13 0.02 None None None None None None NLRP1|0.001451196|93.02%
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 6343_s27 2 rs16065
dbSNP Clinvar 		113875631 100.0 T C PASS 1/1 35 None None None 0.18570 0.18570 0.19399 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 2 rs2234679
dbSNP Clinvar 		113875584 100.0 G C PASS 1/1 35 None None None 0.18590 0.18590 0.19822 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 2 rs2234678
dbSNP Clinvar 		113875565 100.0 A G PASS 1/1 35 None None None 0.18590 0.18590 0.19806 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 2 rs2234677
dbSNP Clinvar 		113875509 100.0 G A PASS 1/1 33 None None None 0.18650 0.18650 0.20587 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 2 rs4251986
dbSNP Clinvar 		113877538 100.0 G C PASS 1/1 50 None None None 0.18750 0.18750 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 12 rs12312467
dbSNP Clinvar 		53184725 100.0 G A PASS 0/1 59 None None None 0.18810 0.18810 0.04468 None None None None None None KRT3|0.041114774|65.41%
View 6343_s27 13 rs34071102
dbSNP Clinvar 		99629961 100.0 C CTTGA PASS 0/1 23 None None None 0.18810 0.18810 None None None None None None DOCK9|0.3175759|26.27%
View 6343_s27 7 rs11764760
dbSNP Clinvar 		20721084 100.0 T C PASS 0/1 69 None None None 0.18830 0.18830 0.18684 None None None None None None ABCB5|0.12579132|46.5%
View 6343_s27 13 rs1290519
dbSNP Clinvar 		99462609 100.0 T C PASS 0/1 45 None None None 0.18870 0.18870 None None None None None None DOCK9|0.3175759|26.27%
View 6343_s27 2 rs878972
dbSNP Clinvar 		113877713 100.0 A C PASS 1/1 40 None None None 0.18970 0.18970 0.19899 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 14 rs11159087
dbSNP Clinvar 		74971374 100.0 C T PASS 0/1 40 None None None 0.19070 0.19070 None None None None None None LTBP2|0.184719306|38.39%
View 6343_s27 13 rs3803228
dbSNP Clinvar 		111134858 37.0 T C PASS 0/1 11 None None None 0.19090 0.19090 0.19202 None None None None None None COL4A2|0.044971251|64.22%
View 6343_s27 2 rs454078
dbSNP Clinvar 		113888793 100.0 A T PASS 1/1 56 None None None 0.19090 0.19090 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 2 rs423904
dbSNP Clinvar 		113887262 100.0 C T PASS 1/1 41 None None None 0.19169 0.19170 0.20606 None None None None None None IL1RN|0.11539686|48.22%

IL1RN
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 6343_s27 2 rs419598
dbSNP Clinvar 		113887207 100.0 T C PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.19169 0.19170 0.20614 None None None None None None IL1RN|0.11539686|48.22%
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 6343_s27 15 rs1908787
dbSNP Clinvar 		86799873 100.0 A T PASS 0/1 18 None None None 0.19169 0.19170 None None None None None None AGBL1|0.082073978|54.74%
View 6343_s27 2 rs442710
dbSNP Clinvar 		113887399 100.0 G A PASS 1/1 39 None None None 0.19169 0.19170 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 2 rs495410
dbSNP Clinvar 		113887338 100.0 A C PASS 1/1 39 None None None 0.19169 0.19170 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 2 rs446433
dbSNP Clinvar 		113887273 100.0 G A PASS 1/1 41 None None None 0.19169 0.19170 0.20583 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 2 rs495282
dbSNP Clinvar 		113887294 100.0 G C PASS 1/1 41 None None None 0.19169 0.19170 0.21397 None None None None None None IL1RN|0.11539686|48.22%

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 6343_s27 17 rs12150220
dbSNP Clinvar 		5485367 100.0 A T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.19209 0.19210 0.33223 0.05 0.67 None None None None None None NLRP1|0.001451196|93.02%
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 6343_s27 2 rs434792
dbSNP Clinvar 		113888470 100.0 C G PASS 1/1 21 None None None 0.19289 0.19290 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 2 rs448341
dbSNP Clinvar 		113888465 100.0 A G PASS 1/1 21 None None None 0.19289 0.19290 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 2 rs451578
dbSNP Clinvar 		113888557 100.0 G A PASS 1/1 21 None None None 0.19469 0.19470 None None None None None None IL1RN|0.11539686|48.22%
View 6343_s27 5 rs2072239
dbSNP Clinvar 		135392507 100.0 G A PASS 0/1 52 None None None 0.19529 0.19530 0.17804 None None None None None None TGFBI|0.999587957|0.3%
View 6343_s27 7 rs73278683
dbSNP Clinvar 		20698804 100.0 C A PASS 0/1 38 None None None 0.20088 0.20090 None None None None None None ABCB5|0.12579132|46.5%