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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
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 6343_s27 12 rs1034762
dbSNP Clinvar
48389643 100.0 A C PASS 1/1 46 None None None 0.68271 0.68270 0.17915 None None None None None None COL2A1|0.956600158|2.04%
View 6343_s27 2 rs4536647
dbSNP Clinvar
227921977 81.0 A G PASS 0/1 24 None None None 0.66673 0.66670 None None None None None None COL4A4|0.099677436|51.24%
View 6343_s27 8 rs7840381
dbSNP Clinvar
141774282 83.0 A C PASS 0/1 23 None None None 0.45807 0.45810 0.37283 None None None None None None PTK2|0.369628478|22.73%
View 6343_s27 13 rs1928104
dbSNP Clinvar
99540395 100.0 A G PASS 0/1 29 None None None 0.67752 0.67750 0.27798 None None None None None None DOCK9|0.3175759|26.27%
View 6343_s27 2 rs4566357
dbSNP Clinvar
227922015 81.0 A G PASS 0/1 24 None None None 0.66653 0.66650 None None None None None None COL4A4|0.099677436|51.24%
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%

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 6343_s27 13 rs445348
dbSNP Clinvar
111158874 100.0 A G PASS 1/1 21 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%

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 rs3752895
dbSNP Clinvar
227886773 100.0 A G PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.52616 0.52620 0.47825 0.95 0.00 None None None None None None COL4A4|0.099677436|51.24%

LTBP2

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 14 rs862031
dbSNP Clinvar
74991855 100.0 A G PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.72824 0.72820 0.28618 None None None None None None LTBP2|0.184719306|38.39%
View 6343_s27 14 rs699374
dbSNP Clinvar
74992800 100.0 A G PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.35335 None None None None None None LTBP2|0.184719306|38.39%
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 6343_s27 14 rs699375
dbSNP Clinvar
74992861 100.0 A C PASS 1/1 36 None None None 0.37840 0.37840 0.34895 None None None None None None LTBP2|0.184719306|38.39%
View 6343_s27 2 rs1917127
dbSNP Clinvar
227895125 100.0 A G PASS 0/1 24 None None None 0.49661 0.49660 0.45409 None None None None None None COL4A4|0.099677436|51.24%
View 6343_s27 2 rs12475686
dbSNP Clinvar
227973623 100.0 A G PASS 0/1 49 None None None 0.60044 0.60040 0.37710 None None None None None None COL4A4|0.099677436|51.24%
View 6343_s27 2 rs12465531
dbSNP Clinvar
227979533 100.0 A C PASS 0/1 45 None None None 0.64217 0.64220 None None None None None None COL4A4|0.099677436|51.24%

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 6343_s27 7 rs849389
dbSNP Clinvar
106508978 100.0 A G PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.08258 None None None None None None PIK3CG|0.990082262|1.08%
Omim - GeneCards - NCBI
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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 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 7 rs5745676
dbSNP Clinvar
81372156 100.0 A G PASS 1/1 11 None None None 0.86362 0.86360 None None None None None None HGF|0.997497848|0.6%

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 6343_s27 2 rs6436669
dbSNP Clinvar
228113175 100.0 A G PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.79633 0.79630 0.22987 1.00 0.01 None None None None None None COL4A3|0.119573089|47.51%
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 6343_s27 2 rs6436672
dbSNP Clinvar
228149107 100.0 A G PASS 1/1 25 None None None 0.81490 0.81490 0.12129 None None None None None None COL4A3|0.119573089|47.51%

LRRN1

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 6343_s27 3 rs4685689
dbSNP Clinvar
3886580 100.0 A G PASS 1/1 33 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%
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 7 rs12536657
dbSNP Clinvar
81350208 100.0 A G PASS 1/1 32 None None None 0.88478 0.88480 0.14923 None None None None None None HGF|0.997497848|0.6%

LRRN1

Omim - GeneCards - NCBI
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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 3 rs9844909
dbSNP Clinvar
3887093 100.0 A G PASS 1/1 33 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%

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 rs10520618
dbSNP Clinvar
86807761 100.0 A G PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.50539 0.50540 0.47409 None None None None None None AGBL1|0.082073978|54.74%
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 12 rs1635544
dbSNP Clinvar
48380031 100.0 A G PASS 1/1 23 None None None 0.48602 0.48600 None None None None None None COL2A1|0.956600158|2.04%
View 6343_s27 3 rs820447
dbSNP Clinvar
123348179 100.0 A G PASS 0/1 36 None None None 0.45986 0.45990 None None None None None None MYLK|0.503223171|15.7%

AGBL1

Omim - GeneCards - NCBI
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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 rs11858435
dbSNP Clinvar
86814866 100.0 A G PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.68211 0.68210 0.26808 None None None None None None AGBL1|0.082073978|54.74%

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 6343_s27 3 rs820463
dbSNP Clinvar
123357037 100.0 A G PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.37440 0.37440 0.19791 None None None None None None MYLK|0.503223171|15.7%
View 6343_s27 3 rs1254392
dbSNP Clinvar
123368013 78.0 A G PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.39617 0.39620 0.22459 None None None None None None MYLK|0.503223171|15.7%
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 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%

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
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 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%
View 6343_s27 4 rs5861493,rs3838231
dbSNP Clinvar
121732339 84.0 A AT PASS 0/1 22 None None None 0.35863 0.35860 None None None None None None PRDM5|0.189342478|37.9%

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 rs8028043
dbSNP Clinvar
87217613 100.0 A G PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.89217 0.89220 0.11030 1.00 0.00 None None None None None None AGBL1|0.082073978|54.74%

ABCB5

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 7 rs2301641
dbSNP Clinvar
20698270 100.0 A G PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.36382 0.36380 0.39997 1.00 0.00 None None None None None None ABCB5|0.12579132|46.5%
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 6343_s27 12 rs1635550
dbSNP Clinvar
48377970 100.0 A G PASS 1/1 22 None None None 0.68311 0.68310 0.23404 None None None None None None COL2A1|0.956600158|2.04%
View 6343_s27 4 rs2276917
dbSNP Clinvar
187129995 100.0 A G PASS 0/1 41 None None None 0.36941 0.36940 0.36599 None None None None None None CYP4V2|0.027940176|70.46%
View 6343_s27 1 rs2820969
dbSNP Clinvar
47883024 100.0 A G PASS 1/1 44 None None None 0.99481 0.99480 None None None None None None FOXE3|0.032576489|68.36%
View 6343_s27 5 rs706714
dbSNP Clinvar
67522851 100.0 A C PASS 0/1 93 None None None 0.42492 0.42490 0.29388 None None None None None None PIK3R1|0.917149804|3.05%

ABCA4

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 rs1762114
dbSNP Clinvar
94471075 100.0 A G PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 None None None None None None ABCA4|0.440503373|18.63%

GPR98

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 6343_s27 5 rs10037067
dbSNP Clinvar
89985882 100.0 A G PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.34984 0.34980 0.31810 0.01 0.89 None None None None None None ADGRV1|0.328571635|25.58%
View 6343_s27 5 rs2366926
dbSNP Clinvar
89988504 100.0 A G PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.32228 0.32230 0.29139 0.05 1.00 None None None None None None ADGRV1|0.328571635|25.58%
View 6343_s27 5 rs1878878
dbSNP Clinvar
89990324 100.0 A G PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.80851 0.80850 0.26875 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
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 6343_s27 12 rs3829737
dbSNP Clinvar
48376447 100.0 A G PASS 1/1 56 None None None None None None None None None COL2A1|0.956600158|2.04%
View 6343_s27 5 rs10067181
dbSNP Clinvar
90012614 100.0 A T PASS 1/1 53 None None None 0.66414 0.66410 None None None None None None ADGRV1|0.328571635|25.58%
View 6343_s27 12 rs3842680,rs397934282
dbSNP Clinvar
48376443 100.0 A AC PASS 1/1 62 None None None 0.43530 None None None None None None COL2A1|0.956600158|2.04%
View 6343_s27 5 rs6452906
dbSNP Clinvar
90016129 100.0 A G PASS 1/1 17 None None None 0.79812 0.79810 None None None None None None ADGRV1|0.328571635|25.58%
View 6343_s27 12 rs2276456
dbSNP Clinvar
48375975 100.0 A G PASS 1/1 30 None None None 0.47324 0.47320 0.42142 None None None None None None COL2A1|0.956600158|2.04%

COL12A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6343_s27 6 rs594012
dbSNP Clinvar
75841722 100.0 A T PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.88618 0.88620 0.11774 None None None None None None COL12A1|0.494206072|16.13%
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 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 5 rs7723259
dbSNP Clinvar
90020868 100.0 A C PASS 1/1 73 None None None 0.79812 0.79810 0.28279 None None None None None None ADGRV1|0.328571635|25.58%
View 6343_s27 5 rs2438339
dbSNP Clinvar
90049238 100.0 A G PASS 1/1 20 None None None 0.82828 0.82830 None None None None None None ADGRV1|0.328571635|25.58%

COL2A1

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 6343_s27 12 rs1635553
dbSNP Clinvar
48375568 100.0 A G PASS 1/1 15 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.45279 None None None None None None COL2A1|0.956600158|2.04%
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 6343_s27 5 rs5869516
dbSNP Clinvar
90051084 100.0 A ATCT PASS 1/1 92 None None None None None None None None None ADGRV1|0.328571635|25.58%

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 6343_s27 15 rs1006030
dbSNP Clinvar
87531281 100.0 A C PASS 1/1 62 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.19396 None None None None None None AGBL1|0.082073978|54.74%

GPR98

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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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 rs2438374
dbSNP Clinvar
90107108 100.0 A G PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.94609 0.94610 0.06388 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%

TGFBI

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 6343_s27 5 rs1054124
dbSNP Clinvar
135388663 100.0 A G PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.38718 0.38720 0.34547 None None None None None None TGFBI|0.999587957|0.3%
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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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 rs6860369
dbSNP Clinvar
135391326 100.0 A G PASS 0/1 39 None None None 0.40415 0.40420 0.37090 None None None None None None TGFBI|0.999587957|0.3%
View 6343_s27 5 rs13168506
dbSNP Clinvar
135396452 100.0 A G PASS 1/1 30 None None None 0.59565 0.59560 None None None None None None TGFBI|0.999587957|0.3%
View 6343_s27 12 rs1635554
dbSNP Clinvar
48374513 100.0 A G PASS 1/1 37 None None None 0.93530 0.93530 None None None None None None COL2A1|0.956600158|2.04%
View 6343_s27 16 rs11866320
dbSNP Clinvar
16267079 100.0 A G PASS 1/1 19 None None None 0.97564 0.97560 None None None None None None ABCC6|0.022547171|72.9%
View 6343_s27 12 rs4760608
dbSNP Clinvar
48368989 100.0 A C PASS 1/1 22 None None None 0.21566 0.21570 None None None None None None COL2A1|0.956600158|2.04%

ADAMTS18

Omim - GeneCards - NCBI
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Pos
Qual
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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 rs8059275
dbSNP Clinvar
77389956 100.0 A G PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.88219 0.88220 0.12527 None None None None None None ADAMTS18|0.112557021|48.75%

ZNF469

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 6343_s27 16 rs12927001
dbSNP Clinvar
88495654 100.0 A G PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.87480 0.87480 None None None None None None ZNF469|0.000923153|95.92%
View 6343_s27 16 rs7197071
dbSNP Clinvar
88497446 100.0 A G PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.81889 0.81890 0.18601 0.01 None None None None None None ZNF469|0.000923153|95.92%
View 6343_s27 16 rs1983014
dbSNP Clinvar
88502505 100.0 A G PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.99621 0.99620 0.00483 0.00 None None None None None None ZNF469|0.000923153|95.92%
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6343_s27 1 rs1554286
dbSNP Clinvar
206944233 100.0 A G PASS 0/1 20 None None None 0.59185 0.59190 0.24912 None None None None None None IL10|0.653335058|9.97%

PXDN

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 6343_s27 2 rs17841813
dbSNP Clinvar
1664654 100.0 A G PASS 1/1 16 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81090 0.81090 0.28651 None None None None None None PXDN|0.054174855|61.43%
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 6343_s27 11 rs113492158
dbSNP Clinvar
61725599 100.0 A AT... PASS 1/1 62 None None None None None None None None None BEST1|0.0975286|51.61%

ZNF469

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6343_s27 16 rs904783
dbSNP Clinvar
88504868 100.0 A G PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00022 0.00 None None None None None None ZNF469|0.000923153|95.92%
Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6343_s27 13 rs9557078
dbSNP Clinvar
99459891 100.0 A C PASS 0/1 22 None None None 0.43011 0.43010 0.39937 None None None None None None DOCK9|0.3175759|26.27%

ZNF469

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 6343_s27 16 rs4782301
dbSNP Clinvar
88505635 100.0 A G PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.79633 0.79630 0.22434 None None None None None None ZNF469|0.000923153|95.92%
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 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%

NLRP1

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 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
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 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 17 rs7406899
dbSNP Clinvar
39766504 100.0 A G PASS 1/1 38 None None None 0.98742 0.98740 0.03337 None None None None None None KRT16|0.063740015|58.95%
View 6343_s27 10 rs1747677
dbSNP Clinvar
105815241 100.0 A C PASS 1/1 14 None None None 0.63259 0.63260 0.41021 None None None None None None COL17A1|0.220252717|34.39%
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%
View 6343_s27 13 rs652572
dbSNP Clinvar
110819457 100.0 A G PASS 1/1 57 None None None 0.58706 0.58710 0.42673 None None None None None None COL4A1|0.224151486|33.94%

KRT16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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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 rs4796681
dbSNP Clinvar
39767744 100.0 A G PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.77416 0.77420 0.37168 None None None None None None KRT16|0.063740015|58.95%
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 6343_s27 20 rs3810561
dbSNP Clinvar
3211064 100.0 A C PASS 1/1 15 None None None 0.78834 0.78830 None None None None None None SLC4A11|0.04004945|65.76%
View 6343_s27 20 rs2281543
dbSNP Clinvar
18005600 100.0 A C PASS 1/1 40 None None None 0.68930 0.68930 0.37244 None None None None None None OVOL2|0.091587792|52.91%

VSX1

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 6343_s27 20 rs56157240
dbSNP Clinvar
25059381 100.0 A T PASS 0/1 15 None None None 0.29054 0.29050 0.30157 None None None None None None VSX1|0.019829989|74.27%
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 6343_s27 21 rs3746993
dbSNP Clinvar
47404397 100.0 A G PASS 1/1 17 None None None 0.88039 0.88040 0.13682 None None None None None None COL6A1|0.085741402|53.99%

COL17A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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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 rs2476958
dbSNP Clinvar
105796819 100.0 A G PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.98602 0.98600 0.01377 None None None None None None COL17A1|0.220252717|34.39%
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 6343_s27 10 rs805714
dbSNP Clinvar
105796738 100.0 A C PASS 1/1 47 None None None 0.98602 0.98600 0.01424 None None None None None None COL17A1|0.220252717|34.39%
View 6343_s27 10 rs2476957
dbSNP Clinvar
105796449 100.0 A G PASS 1/1 19 None None None 0.98582 0.98580 None None None None None None COL17A1|0.220252717|34.39%
View 6343_s27 21 rs2277814
dbSNP Clinvar
47409503 100.0 A G PASS 1/1 48 None None None 0.87680 0.87680 0.13706 None None None None None None COL6A1|0.085741402|53.99%
View 6343_s27 21 rs371490467
dbSNP Clinvar
47410404 100.0 A G PASS 1/1 21 None None None 0.47664 0.47660 None None None None None None COL6A1|0.085741402|53.99%

SFTPD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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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 rs721917
dbSNP Clinvar
81706324 100.0 A G PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.50459 0.50460 0.41358 0.32 0.00 None None None None None None SFTPD|0.023000884|72.72%
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 6343_s27 21 rs2850173
dbSNP Clinvar
47412751 100.0 A C PASS 0/1 66 None None None 0.87141 0.87140 0.12096 None None None None None None COL6A1|0.085741402|53.99%
View 6343_s27 21 rs7276782
dbSNP Clinvar
47420769 100.0 A G PASS 0/1 43 None None None 0.86741 0.86740 0.13951 None None None None None None COL6A1|0.085741402|53.99%

SFTPD

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 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%
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
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 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 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%

COL4A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 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%
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 6343_s27 13 rs598819
dbSNP Clinvar
110859690 100.0 A G PASS 1/1 35 None None None 0.98183 0.98180 None None None None None None COL4A1|0.224151486|33.94%
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 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 9 rs4072882
dbSNP Clinvar
137687038 100.0 A G PASS 0/1 62 None None None 0.69389 0.69390 0.34385 None None None None None None COL5A1|0.207487878|35.85%