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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

ABCA4

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 1 rs1762114
dbSNP Clinvar
94471075 100.0 A G PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 None None None None None None ABCA4|0.440503373|18.63%
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%
View 6424_s25 1 rs3112831
dbSNP Clinvar
94544234 100.0 T C PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.22085 0.22080 0.26065 0.63 0.00 None None None None None None ABCA4|0.440503373|18.63%

ABCB5

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 rs10254317
dbSNP Clinvar
20768013 100.0 G A PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.59605 0.59600 0.47801 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 rs6461515
dbSNP Clinvar
20778646 100.0 G A PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.75679 0.75680 0.22620 0.13 0.81 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 rs2074000
dbSNP Clinvar
20685484 100.0 C A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.14317 0.14320 0.00641 0.00 0.85 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 rs2301641
dbSNP Clinvar
20698270 100.0 A G PASS 0/1 59 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%
View 6424_s25 7 rs200795180
dbSNP Clinvar
20698693 100.0 C T PASS 0/1 73 None None None 0.00140 0.00140 0.00010 0.03 0.00 None None None None None None ABCB5|0.12579132|46.5%

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 rs9940825
dbSNP Clinvar
16291971 100.0 C T PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.23223 0.23220 0.30603 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs9930886
dbSNP Clinvar
16291983 100.0 A G PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.28275 0.28270 0.31330 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs2238472
dbSNP Clinvar
16251599 100.0 C T PASS 0/1 63 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%
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%
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%
View 6424_s25 16 rs8058694
dbSNP Clinvar
16278863 100.0 G T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.33267 0.33270 0.45306 0.59 0.00 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs8058696
dbSNP Clinvar
16278869 100.0 G C PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.33267 0.33270 0.45306 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs12931472
dbSNP Clinvar
16281007 100.0 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.33946 0.33950 0.46398 0.77 0.00 None None None None None None ABCC6|0.022547171|72.9%

ADAMTS18

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 rs9930984
dbSNP Clinvar
77353973 100.0 G T PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.63498 0.63500 0.48561 0.12 0.00 None None None None None None ADAMTS18|0.112557021|48.75%
View 6424_s25 16 rs11640912
dbSNP Clinvar
77359919 100.0 A T PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.31887 0.00 0.01 None None None None None None ADAMTS18|0.112557021|48.75%
View 6424_s25 16 rs8059275
dbSNP Clinvar
77389956 100.0 A G PASS 1/1 81 SYNONYMOUS_CODING LOW None 0.88219 0.88220 0.12527 None None None None None None ADAMTS18|0.112557021|48.75%
View 6424_s25 16 rs35478105
dbSNP Clinvar
77325325 100.0 G T PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.22784 0.22780 0.36819 0.03 0.13 None None None None None None ADAMTS18|0.112557021|48.75%
View 6424_s25 16 rs11643211
dbSNP Clinvar
77401545 89.0 A G PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.36681 0.36680 0.25262 0.41 0.35 None None None None None None ADAMTS18|0.112557021|48.75%

AGBL1

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 15 rs8028043
dbSNP Clinvar
87217613 100.0 A G PASS 1/1 84 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%
View 6424_s25 15 rs4362360
dbSNP Clinvar
86940622 100.0 T C PASS 1/1 124 SYNONYMOUS_CODING LOW None 0.74421 0.74420 0.39279 None None None None None None AGBL1|0.082073978|54.74%
View 6424_s25 15 rs11858435
dbSNP Clinvar
86814866 100.0 A G PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.68211 0.68210 0.26808 None None None None None None AGBL1|0.082073978|54.74%
View 6424_s25 15 rs10520618
dbSNP Clinvar
86807761 100.0 A G PASS 0/1 119 SYNONYMOUS_CODING LOW None 0.50539 0.50540 0.47409 None None None None None None AGBL1|0.082073978|54.74%
View 6424_s25 15 rs1006030
dbSNP Clinvar
87531281 100.0 A C PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.19396 None None None None None None AGBL1|0.082073978|54.74%
View 6424_s25 15 rs150261781
dbSNP Clinvar
86697675 100.0 C T PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.01138 0.01138 0.00100 0.09 0.02 None None None None None None AGBL1|0.082073978|54.74%

ANGPTL7

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 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%

BEST1

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 11 rs149698
dbSNP Clinvar
61730036 100.0 G A PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.11222 0.11220 0.23427 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%
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%
View 6424_s25 11 rs1800007
dbSNP Clinvar
61719387 100.0 T C PASS 0/1 51 None None None 0.68051 0.68050 0.44732 None None None None None None BEST1|0.0975286|51.61%

COL12A1

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 6 rs594012
dbSNP Clinvar
75841722 100.0 A T PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.88618 0.88620 0.11774 None None None None None None COL12A1|0.494206072|16.13%
View 6424_s25 6 rs970547
dbSNP Clinvar
75797302 100.0 C T PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.71186 0.71190 0.25525 0.02 1.00 None None None None None None COL12A1|0.494206072|16.13%

COL17A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 10 rs805698
dbSNP Clinvar
105816916 100.0 C T PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.81849 0.81850 0.15113 0.46 0.00 None None None None None None COL17A1|0.220252717|34.39%
View 6424_s25 10 rs805708
dbSNP Clinvar
105824333 100.0 G A PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.56490 0.56490 0.41489 0.00 0.89 None None None None None None COL17A1|0.220252717|34.39%
View 6424_s25 10 rs805701
dbSNP Clinvar
105819956 100.0 G A PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.55252 0.55250 0.44480 None None None None None None COL17A1|0.220252717|34.39%
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%
View 6424_s25 10 rs4918079
dbSNP Clinvar
105801253 100.0 G A PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.67392 0.67390 0.28187 None None None None None None COL17A1|0.220252717|34.39%
View 6424_s25 10 rs2296219
dbSNP Clinvar
105799216 100.0 G T PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.68351 0.68350 0.28487 None None None None None None COL17A1|0.220252717|34.39%
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%
View 6424_s25 10 rs2476958
dbSNP Clinvar
105796819 100.0 A G PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.98602 0.98600 0.01377 None None None None None None COL17A1|0.220252717|34.39%
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%

COL2A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 12 rs2070739
dbSNP Clinvar
48367976 100.0 C T PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.17093 0.17090 0.06981 0.05 1.00 None None None None None None COL2A1|0.956600158|2.04%
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%
View 6424_s25 12 rs200214562
dbSNP Clinvar
48367310 100.0 A G PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None COL2A1|0.956600158|2.04%

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 6424_s25 13 rs16975492
dbSNP Clinvar
110833702 100.0 C T PASS 0/1 44 SYNONYMOUS_CODING LOW None 0.30711 0.30710 0.32162 None None None None None None COL4A1|0.224151486|33.94%
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%
View 6424_s25 13 rs995224
dbSNP Clinvar
110850842 100.0 A G PASS 0/1 95 SYNONYMOUS_CODING LOW None 0.20647 0.20650 0.25250 None None None None None None COL4A1|0.224151486|33.94%
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%
View 6424_s25 13 rs874204
dbSNP Clinvar
110827580 100.0 C T PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.31809 0.31810 0.33592 None None None None None None COL4A1|0.224151486|33.94%
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%

COL4A2

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 13 rs445348
dbSNP Clinvar
111158874 100.0 A G PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs4238272
dbSNP Clinvar
111077197 100.0 G A PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs7990214
dbSNP Clinvar
111111173 100.0 G A PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.49141 0.49140 0.37904 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs7990383
dbSNP Clinvar
111111235 100.0 G A PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.50919 0.50920 0.36542 0.99 0.00 None None None None None None COL4A2|0.044971251|64.22%
View 6424_s25 13 rs3803230
dbSNP Clinvar
111119396 100.0 G C PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.10383 0.10380 0.10350 0.46 0.01 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%
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 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%
View 6424_s25 13 rs4771683
dbSNP Clinvar
111156499 100.0 C T PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%

COL4A3

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 2 rs6436669
dbSNP Clinvar
228113175 100.0 A G PASS 1/1 177 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%
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%
View 6424_s25 2 rs10205042
dbSNP Clinvar
228128540 100.0 C T PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.76757 0.76760 0.28196 None None None None None None COL4A3|0.119573089|47.51%
View 6424_s25 2 rs13424243
dbSNP Clinvar
228102723 100.0 G C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.23023 0.23020 0.35109 0.02 0.99 None None None None None None COL4A3|0.119573089|47.51%
View 6424_s25 2 rs55703767
dbSNP Clinvar
228121101 100.0 G T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.11582 0.11580 0.16577 0.06 0.16 None None None None None None COL4A3|0.119573089|47.51%

COL5A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 9 rs2228560
dbSNP Clinvar
137711997 100.0 G C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.01937 0.01937 0.42519 None None None None None None COL5A1|0.207487878|35.85%
View 6424_s25 9 rs3124299
dbSNP Clinvar
137619195 100.0 C T PASS 0/1 42 SYNONYMOUS_CODING LOW None 0.34265 0.34270 0.33215 None None None None None None COL5A1|0.207487878|35.85%
View 6424_s25 9 rs3827848
dbSNP Clinvar
137707834 100.0 G A PASS 0/1 29 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12979 0.12980 0.14178 None None None None None None COL5A1|0.207487878|35.85%

COL5A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 2 rs2229495
dbSNP Clinvar
189932831 100.0 T C PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.94289 0.94290 0.03737 None None None None None None COL5A2|0.575233366|12.81%
View 6424_s25 2 rs6434312
dbSNP Clinvar
189907937 100.0 A G PASS 0/1 115 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.02868 None None None None None None COL5A2|0.575233366|12.81%
View 6424_s25 2 rs4128539
dbSNP Clinvar
189974958 100.0 G T PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.88858 0.88860 0.06005 None None None None None None COL5A2|0.575233366|12.81%

COL6A1

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 21 rs140547835
dbSNP Clinvar
47422614 100.0 G T PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.00659 0.00659 0.00162 0.52 0.00 None None None None None None COL6A1|0.085741402|53.99%

COL8A2

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 1 rs57985157
dbSNP Clinvar
36565739 100.0 C T PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.09665 0.09665 0.01153 None None None None None None COL8A2|0.188633378|37.99%
View 6424_s25 1 rs35495320
dbSNP Clinvar
36563797 100.0 C T PASS 1/1 26 SYNONYMOUS_CODING LOW None 0.18151 0.18150 0.02243 None None None None None None COL8A2|0.188633378|37.99%

CYP4V2

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 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%

FOXE3

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 1 rs34082359
dbSNP Clinvar
47882497 100.0 C T PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.27855 0.27860 0.31318 None None None None None None FOXE3|0.032576489|68.36%

GPR98

Omim - GeneCards - NCBI
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 5 rs16876822
dbSNP Clinvar
89989779 100.0 G A PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.32209 0.32210 0.29030 None None None None None None ADGRV1|0.328571635|25.58%
View 6424_s25 5 rs2247870
dbSNP Clinvar
90151589 100.0 G A PASS 1/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.45907 0.45910 0.43475 0.08 0.18 None None None None None None ADGRV1|0.328571635|25.58%
View 6424_s25 5 rs2438378
dbSNP Clinvar
90119324 100.0 G A PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.97224 0.97220 0.02790 0.25 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 6424_s25 5 rs2438374
dbSNP Clinvar
90107108 100.0 A G PASS 1/1 111 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%
View 6424_s25 5 rs2438349
dbSNP Clinvar
90052372 100.0 C T PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.53934 0.53930 0.47965 None None None None None None ADGRV1|0.328571635|25.58%
View 6424_s25 5 rs10062026
dbSNP Clinvar
90052289 100.0 G A PASS 1/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.29613 0.29610 0.25290 0.13 0.16 None None None None None None ADGRV1|0.328571635|25.58%
View 6424_s25 5 rs2366928
dbSNP Clinvar
90024735 100.0 G A PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.82907 0.82910 0.24704 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 6424_s25 5 rs16869042
dbSNP Clinvar
90020923 100.0 T G PASS 1/1 136 SYNONYMOUS_CODING LOW None 0.29627 None None None None None None ADGRV1|0.328571635|25.58%
View 6424_s25 5 rs955913647
dbSNP Clinvar
90004686 100.0 A T PASS 0/1 71 SYNONYMOUS_CODING LOW None None None None None None None ADGRV1|0.328571635|25.58%
View 6424_s25 5 rs1878878
dbSNP Clinvar
89990324 100.0 A G PASS 1/1 65 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%
View 6424_s25 5 rs2366926
dbSNP Clinvar
89988504 100.0 A G PASS 1/1 50 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 6424_s25 5 rs10037067
dbSNP Clinvar
89985882 100.0 A G PASS 1/1 82 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 6424_s25 5 rs4916685
dbSNP Clinvar
89979698 100.0 C T PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.33726 0.33730 0.30536 0.08 1.00 None None None None None None ADGRV1|0.328571635|25.58%
View 6424_s25 5 rs4916684
dbSNP Clinvar
89979589 100.0 G A PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.80371 0.80370 0.27248 0.89 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 6424_s25 5 rs2366777
dbSNP Clinvar
89943571 100.0 G T PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.81030 0.81030 0.27251 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%

IL1RN

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 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%

ITGB1

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 rs2230396
dbSNP Clinvar
33209266 100.0 G T PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.78455 0.78450 0.17446 None None None None None None ITGB1|0.816912657|5.38%
View 6424_s25 10 rs2298141
dbSNP Clinvar
33214802 100.0 A G PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.15655 0.15650 0.13532 None None None None None None ITGB1|0.816912657|5.38%

KRT12

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 17 rs11650915
dbSNP Clinvar
39023396 100.0 G A PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.30951 0.30950 0.27126 1.00 0.00 None None None None None None KRT12|0.089362402|53.37%

KRT13

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 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%
View 6424_s25 17 rs8182306
dbSNP Clinvar
39661689 100.0 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.85503 0.85500 0.13248 None None None None None None KRT13|0.071438602|57.11%
View 6424_s25 17 rs9891361
dbSNP Clinvar
39659913 100.0 G A PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.30486 0.04 0.78 None None None None None None KRT13|0.071438602|57.11%

KRT15

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 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%