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+ Genes 35

+ Genes associated with diseases 26

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, CHST6, COL12A1, COL17A1, COL2A1, COL4A1, COL4A3, COL4A4, COL4A5, COL5A2, COL6A1, CYP4V2, KRT13, KRT16, MYLK, NLRP1, PIKFYVE, PXDN, SIX5, SLC4A11, TCF4, TGFBI, 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)
CHST6 Macular corneal dystrophy, 217800 (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)
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)
COL4A5 Alport syndrome 1, X-linked, 301050 (3)
COL5A2 Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (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)
PIKFYVE Corneal fleck dystrophy, 121850 (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)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCA4, ABCC6, ADAMTS18, AGBL1, CHST6, COL12A1, COL17A1, COL2A1, COL4A1, COL4A3, COL4A4, COL4A5, COL5A2, COL6A1, CYP4V2, KRT13, KRT16, MYLK, NLRP1, PIKFYVE, PXDN, SIX5, SLC4A11, TCF4, TGFBI, 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
CHST6 Macular dystrophy, corneal, 1
Macular dystrophy, corneal, 2
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
COL4A3 Alport syndrome, autosomal dominant
Alport syndrome, autosomal recessive
COL4A4 Alport syndrome, autosomal recessive
COL4A5 Alport syndrome, X-linked
COL5A2 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
KRT13 White sponge nevus 2
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
MYLK Aortic aneurysm, familial thoracic 7
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PIKFYVE Corneal fleck dystrophy
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
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 105
Number of Genes: 35

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 6306_s1 1 rs6657239
dbSNP Clinvar 		94564483 100.0 C T PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.05331 0.05331 0.04644 0.04 0.98 None None None None None None ABCA4|0.440503373|18.63%
View 6306_s1 1 rs6666652
dbSNP Clinvar 		94461717 100.0 C A PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.17692 0.17690 0.19260 0.05 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 6306_s1 7 rs2301641
dbSNP Clinvar 		20698270 100.0 A G PASS 1/1 20 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 6306_s1 7 rs140851914
dbSNP Clinvar 		20666191 100.0 A C PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.00301 0.18 0.62 None None None None None None ABCB5|0.12579132|46.5%
View 6306_s1 7 rs17143304
dbSNP Clinvar 		20767954 100.0 G A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.07907 0.07907 0.07335 0.01 0.25 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 6306_s1 16 rs6416668
dbSNP Clinvar 		16271357 100.0 T C PASS 1/1 48 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 6306_s1 16 rs59593133
dbSNP Clinvar 		16276292 100.0 T C PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.02296 0.02296 0.02609 0.43 0.00 None None None None None None ABCC6|0.022547171|72.9%
View 6306_s1 16 rs8058694
dbSNP Clinvar 		16278863 100.0 G T PASS 0/1 29 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 6306_s1 16 rs12931472
dbSNP Clinvar 		16281007 100.0 A G PASS 1/1 35 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%
View 6306_s1 16 rs60707953
dbSNP Clinvar 		16259497 100.0 G T PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.00759 0.00759 0.00777 0.32 0.57 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 6306_s1 16 rs114018664
dbSNP Clinvar 		77334293 100.0 C A PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.00899 0.00899 0.01016 0.03 0.00 None None None None None None ADAMTS18|0.112557021|48.75%
View 6306_s1 16 rs9930984
dbSNP Clinvar 		77353973 100.0 G T PASS 0/1 70 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%

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 6306_s1 15 rs372859846
dbSNP Clinvar 		86813175 100.0 G A PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00016 0.11 0.03 None None None None None None AGBL1|0.082073978|54.74%
View 6306_s1 15 rs11857527
dbSNP Clinvar 		86807843 100.0 T C PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.13359 0.13360 0.16900 0.05 0.00 None None None None None None AGBL1|0.082073978|54.74%
View 6306_s1 15 rs8028043
dbSNP Clinvar 		87217613 100.0 A G PASS 1/1 33 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%

CHST6
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 6306_s1 16 rs79173362
dbSNP Clinvar 		75512721 100.0 C T PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00200 0.73 0.00 None None None None None None CHST6|0.068807655|57.77%

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 6306_s1 6 rs79830915
dbSNP Clinvar 		75848169 100.0 C T PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.02216 0.02216 0.01892 0.00 0.95 None None None None None None COL12A1|0.494206072|16.13%
View 6306_s1 6 rs117038107
dbSNP Clinvar 		75834860 100.0 G A PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.00359 0.00359 0.00897 0.63 0.01 None None None None None None COL12A1|0.494206072|16.13%
View 6306_s1 6 rs970547
dbSNP Clinvar 		75797302 100.0 C T PASS 0/1 28 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%
View 6306_s1 6 rs240736
dbSNP Clinvar 		75848181 100.0 A G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.26498 0.26500 0.29199 0.36 0.00 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 6306_s1 10 rs805722
dbSNP Clinvar 		105810400 100.0 T C PASS 0/1 45 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 6306_s1 10 rs805708
dbSNP Clinvar 		105824333 100.0 G A PASS 0/1 48 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 6306_s1 10 rs805698
dbSNP Clinvar 		105816916 100.0 C T PASS 0/1 27 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%

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 6306_s1 12 rs3803183
dbSNP Clinvar 		48398080 100.0 T A PASS 1/1 37 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%

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 6306_s1 13 rs536174
dbSNP Clinvar 		110839550 100.0 T G PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
View 6306_s1 13 rs9515185
dbSNP Clinvar 		110959356 100.0 C G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.42412 0.42410 0.00 None None None None None None COL4A1|0.224151486|33.94%,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 6306_s1 2 rs6436669
dbSNP Clinvar 		228113175 100.0 A G PASS 0/1 109 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 6306_s1 2 rs13424243
dbSNP Clinvar 		228102723 100.0 G C PASS 0/1 36 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 6306_s1 2 rs10178458
dbSNP Clinvar 		228111435 100.0 T C PASS 0/1 46 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%

COL4A4
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 6306_s1 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%
View 6306_s1 2 rs2229814
dbSNP Clinvar 		227954599 100.0 G A PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.54852 0.54850 0.49096 0.87 0.00 None None None None None None COL4A4|0.099677436|51.24%
View 6306_s1 2 rs1800516
dbSNP Clinvar 		227946893 100.0 C G PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.02057 0.02057 0.03470 0.01 1.00 None None None None None None COL4A4|0.099677436|51.24%
View 6306_s1 2 rs1800517
dbSNP Clinvar 		227915832 100.0 G A PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.54732 0.54730 0.48141 0.01 0.20 None None None None None None COL4A4|0.099677436|51.24%
View 6306_s1 2 rs2229813
dbSNP Clinvar 		227892720 100.0 C T PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.49301 0.49300 0.45483 1.00 0.00 None None None None None None COL4A4|0.099677436|51.24%

COL4A5
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 6306_s1 X rs2272946
dbSNP Clinvar 		107834453 100.0 T G PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.14940 0.14940 0.12157 0.61 0.01 None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs142929745
dbSNP Clinvar 		107868941 100.0 A G PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.00053 0.00053 0.00047 0.02 0.38 None None None None None None COL4A5|0.684108995|8.97%

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 6306_s1 2 rs115570272
dbSNP Clinvar 		189932742 100.0 G A PASS 0/1 30 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00859 0.00859 0.01169 0.52 0.00 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 6306_s1 21 rs1053312
dbSNP Clinvar 		47423389 100.0 G A PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.27017 0.27020 0.33961 0.11 0.00 None None None None None None COL6A1|0.085741402|53.99%

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 6306_s1 4 rs1055138
dbSNP Clinvar 		187113041 100.0 C G PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.40974 0.40970 0.46360 0.83 0.00 None None None None None None CYP4V2|0.027940176|70.46%
View 6306_s1 4 rs13146272
dbSNP Clinvar 		187120211 100.0 C A PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.55931 0.55930 0.37175 1.00 0.00 None None None None None None CYP4V2|0.027940176|70.46%

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 6306_s1 5 rs62000408
dbSNP Clinvar 		90085654 100.0 T C PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.03894 0.03894 0.03419 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 6306_s1 5 rs2438378
dbSNP Clinvar 		90119324 100.0 G A PASS 1/1 37 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 6306_s1 5 rs2438374
dbSNP Clinvar 		90107108 100.0 A G PASS 1/1 62 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 6306_s1 5 rs200153555
dbSNP Clinvar 		90103525 100.0 G C PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00210 0.58 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 6306_s1 5 rs7729495
dbSNP Clinvar 		90103487 100.0 T C PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.05471 0.05471 0.05260 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 6306_s1 5 rs145294917
dbSNP Clinvar 		90041434 100.0 G C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.00220 0.00220 0.00406 0.00 0.94 None None None None None None ADGRV1|0.328571635|25.58%
View 6306_s1 5 rs2366928
dbSNP Clinvar 		90024735 100.0 G A PASS 1/1 29 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 6306_s1 5 rs16869032
dbSNP Clinvar 		90016871 100.0 G A PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.22185 0.22180 0.13831 0.00 0.84 None None None None None None ADGRV1|0.328571635|25.58%
View 6306_s1 5 rs79915053
dbSNP Clinvar 		89990386 100.0 T G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.01458 0.01458 0.01473 0.62 0.01 None None None None None None ADGRV1|0.328571635|25.58%
View 6306_s1 5 rs1878878
dbSNP Clinvar 		89990324 100.0 A G PASS 1/1 37 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 6306_s1 5 rs16868972
dbSNP Clinvar 		89979750 79.0 G T PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.31370 0.31370 0.22990 0.06 1.00 None None None None None None ADGRV1|0.328571635|25.58%
View 6306_s1 5 rs41303352
dbSNP Clinvar 		89979691 79.0 A G PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.18921 0.09 0.01 None None None None None None ADGRV1|0.328571635|25.58%
View 6306_s1 5 rs4916684
dbSNP Clinvar 		89979589 100.0 G A PASS 1/1 60 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 6306_s1 5 rs2366777
dbSNP Clinvar 		89943571 100.0 G T PASS 1/1 45 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%

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 6306_s1 17 rs760134
dbSNP Clinvar 		39661366 100.0 G C PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.07428 0.07428 0.07550 1.00 0.25 None None None None None None KRT13|0.071438602|57.11%
View 6306_s1 17 rs9891361
dbSNP Clinvar 		39659913 100.0 G A PASS 0/1 75 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%
View 6306_s1 17 rs4796697
dbSNP Clinvar 		39659194 100.0 T C PASS 1/1 68 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%

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 6306_s1 17 rs2305556
dbSNP Clinvar 		39671724 100.0 T C PASS 1/1 28 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.13339 0.13340 0.22182 0.28 0.01 None None None None None None KRT15|0.103828379|50.45%
View 6306_s1 17 rs897420
dbSNP Clinvar 		39670912 100.0 G C PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.97284 0.97280 0.02791 0.62 0.00 None None None None None None KRT15|0.103828379|50.45%

KRT16
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 6306_s1 17 rs144088254
dbSNP Clinvar 		39768729 100.0 C G PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.01078 0.01078 0.00889 0.20 0.00 None None None None None None KRT16|0.063740015|58.95%

KRT23
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 6306_s1 17 rs9257
dbSNP Clinvar 		39084504 100.0 T C PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.58327 0.58330 0.45002 1.00 0.00 None None None None None None KRT23|0.054190188|61.41%

KRT24
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 6306_s1 17 rs874889
dbSNP Clinvar 		38857446 100.0 C A PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.47684 0.47680 0.38090 0.57 0.00 None None None None None None KRT24|0.036955337|66.8%
View 6306_s1 17 rs2462961
dbSNP Clinvar 		38855772 100.0 T C PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.48693 1.00 0.00 None None None None None None KRT24|0.036955337|66.8%
View 6306_s1 17 rs7211480
dbSNP Clinvar 		38857498 100.0 C T PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.00899 0.00899 0.00807 0.00 0.99 None None None None None None KRT24|0.036955337|66.8%

MYLK
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 6306_s1 3 rs3796164
dbSNP Clinvar 		123453061 100.0 A G PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.30192 0.30190 0.15631 0.21 0.00 None None None None None None MYLK|0.503223171|15.7%
View 6306_s1 3 rs28497577
dbSNP Clinvar 		123512627 100.0 G T PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.19728 0.19730 0.18492 0.34 0.01 None None None None None None MYLK|0.503223171|15.7%
View 6306_s1 3 rs9840993
dbSNP Clinvar 		123457893 100.0 G A PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.85623 0.85620 0.12756 0.09 0.05 None None None None None None MYLK|0.503223171|15.7%
View 6306_s1 3 rs9833275
dbSNP Clinvar 		123451773 100.0 G C PASS 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.99900 0.99900 0.00138 1.00 0.00 None None None None None None MYLK|0.503223171|15.7%
View 6306_s1 3 rs3732486
dbSNP Clinvar 		123419733 100.0 A G PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.27895 0.27900 0.09988 0.81 0.00 None None None None None None MYLK|0.503223171|15.7%

NLRP1
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 6306_s1 17 . 5418307 100.0 C G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.79 None None None None None None NLRP1|0.001451196|93.02%
View 6306_s1 17 rs73973843
dbSNP Clinvar 		5462215 100.0 T A PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.02995 0.02995 0.02706 0.00 0.89 None None None None None None NLRP1|0.001451196|93.02%

PIKFYVE
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 6306_s1 2 rs999890
dbSNP Clinvar 		209190632 100.0 T G PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.09904 0.09904 0.14117 0.16 0.06 None None None None None None PIKFYVE|0.407766308|20.32%
View 6306_s1 2 rs16840913
dbSNP Clinvar 		209179939 100.0 A G PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.02816 0.02815 0.03645 0.21 0.95 None None None None None None PIKFYVE|0.407766308|20.32%
View 6306_s1 2 rs10932258
dbSNP Clinvar 		209184980 100.0 G A PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.99181 0.99180 0.00785 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 6306_s1 2 rs2363468
dbSNP Clinvar 		209190330 100.0 T C PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.91174 0.91170 0.07758 0.88 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 6306_s1 2 rs893254
dbSNP Clinvar 		209190519 100.0 A T PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.91154 0.91150 0.07766 0.22 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 6306_s1 2 rs893253
dbSNP Clinvar 		209190528 100.0 C G PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.91214 0.91210 0.07689 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 6306_s1 2 rs1529979
dbSNP Clinvar 		209191082 100.0 C A PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.91154 0.91150 0.07766 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%

PXDN
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 6306_s1 2 rs73910815
dbSNP Clinvar 		1664685 100.0 G A PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.00539 0.00662 0.68 0.00 None None None None None None PXDN|0.054174855|61.43%

PXN
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 6306_s1 12 . 120653220 100.0 C T PASS 0/1 57 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.76 0.00 None None None None None None PXN|0.716901595|8.07%
View 6306_s1 12 rs4767884
dbSNP Clinvar 		120661977 100.0 T C PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.90076 0.90080 0.16978 0.56 0.00 None None None None None None PXN|0.716901595|8.07%

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 6306_s1 10 rs721917
dbSNP Clinvar 		81706324 100.0 A G PASS 0/1 75 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%
View 6306_s1 10 rs2243639
dbSNP Clinvar 		81701722 100.0 T C PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.77037 0.77040 0.28395 1.00 0.00 None None None None None None SFTPD|0.023000884|72.72%

SIX5
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 6306_s1 19 rs2341097
dbSNP Clinvar 		46268902 100.0 C T PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.29812 0.29810 0.34366 0.01 0.17 None None None None None None SIX5|0.127519574|46.26%
View 6306_s1 19 rs2014377
dbSNP Clinvar 		46269313 100.0 G C PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.90395 0.90400 0.12762 1.00 0.00 None None None None None None SIX5|0.127519574|46.26%

SLC4A11
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 6306_s1 20 rs3810562
dbSNP Clinvar 		3218634 100.0 G C PASS 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.64157 0.64160 0.67 0.00 None None None None None None SLC4A11|0.04004945|65.76%

TCF4
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 6306_s1 18 rs611326
dbSNP Clinvar 		53303101 100.0 C G PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00123 0.52 0.00 None None None None None None TCF4|0.999272266|0.38%

TGFBI
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 6306_s1 5 rs199852470
dbSNP Clinvar 		135385161 100.0 C T PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.00240 0.00240 0.00040 0.00 1.00 None None None None None None TGFBI|0.999587957|0.3%

TLN1
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 6306_s1 9 rs2295795
dbSNP Clinvar 		35712003 100.0 G A PASS 0/1 43 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.20148 0.20150 0.20667 0.12 0.00 None None None None None None TLN1|0.598640538|11.8%

WNT9B
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 6306_s1 17 rs4968281
dbSNP Clinvar 		44950122 100.0 T C PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.70707 0.70710 0.20855 0.46 0.00 None None None None None None WNT9B|0.216421213|34.84%

ZNF469
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 6306_s1 16 rs4782300
dbSNP Clinvar 		88498221 100.0 C T PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.84425 0.84420 0.12275 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 6306_s1 16 rs145158875
dbSNP Clinvar 		88498076 100.0 C A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00359 0.00359 0.01 None None None None None None ZNF469|0.000923153|95.92%
View 6306_s1 16 rs184894059
dbSNP Clinvar 		88497350 100.0 C T PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.00479 0.00479 0.64 None None None None None None ZNF469|0.000923153|95.92%
View 6306_s1 16 rs7197071
dbSNP Clinvar 		88497446 100.0 A G PASS 0/1 59 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 6306_s1 16 rs7199961
dbSNP Clinvar 		88495407 100.0 G C PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.99161 0.99160 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 6306_s1 16 rs3812956
dbSNP Clinvar 		88501971 100.0 T A PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.29433 0.29430 0.33830 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 6306_s1 16 rs1105066
dbSNP Clinvar 		88504850 100.0 G C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.39097 0.39100 0.45093 0.12 None None None None None None ZNF469|0.000923153|95.92%
View 6306_s1 16 rs904783
dbSNP Clinvar 		88504868 100.0 A G PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00022 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 6306_s1 16 rs1983014
dbSNP Clinvar 		88502505 100.0 A G PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.99621 0.99620 0.00483 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 6306_s1 16 rs557063759
dbSNP Clinvar 		88502738 100.0 T C PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.24 None None None None None None ZNF469|0.000923153|95.92%