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Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A4, COL4A5, COL5A2, COL6A1, CYP4V2, KRT13, LTBP2, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, SIX5, SLC4A11, TCF4, ZEB1, 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)
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)
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)
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)
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)
ZEB1 Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
Corneal dystrophy, posterior polymorphous, 3, 609141 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A4, COL4A5, COL5A2, COL6A1, CYP4V2, KRT13, LTBP2, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, SIX5, SLC4A11, TCF4, ZEB1, 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
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
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
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
SIX5 Branchiootorenal syndrome 2
SLC4A11 Cryohydrocytosis
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
ZEB1 Corneal dystrophy, Fuchs endothelial 6
Corneal dystrophy, posterior polymorphous, 3
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 243
Number of Genes: 34

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 rs4847281
dbSNP Clinvar
94578548 100.0 T C PASS 1/1 10 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%
View 6306_s1 1 rs1801555
dbSNP Clinvar
94466659 100.0 A G PASS 1/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.30112 0.30110 0.29886 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 rs10254317
dbSNP Clinvar
20768013 100.0 G A PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.59605 0.59600 0.47801 None None None None None None ABCB5|0.12579132|46.5%
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%

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 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 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 rs7500834
dbSNP Clinvar
16272670 100.0 T C PASS 1/1 90 SYNONYMOUS_CODING LOW None 0.96446 0.96450 0.03548 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 rs8059275
dbSNP Clinvar
77389956 100.0 A G PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.88219 0.88220 0.12527 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 rs1353578
dbSNP Clinvar
86800209 100.0 C T PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.53974 0.53970 0.35463 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%
View 6306_s1 15 rs4362360
dbSNP Clinvar
86940622 100.0 T C PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.74421 0.74420 0.39279 None None None None None None AGBL1|0.082073978|54.74%
View 6306_s1 15 rs1566088
dbSNP Clinvar
86806029 100.0 C T PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.30818 None None None None None None AGBL1|0.082073978|54.74%

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 6306_s1 11 rs1800007
dbSNP Clinvar
61719387 100.0 T C PASS 1/1 37 None None None 0.68051 0.68050 0.44732 None None None None None None BEST1|0.0975286|51.61%

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 rs2296219
dbSNP Clinvar
105799216 100.0 G T PASS 1/1 11 SYNONYMOUS_CODING LOW None 0.68351 0.68350 0.28487 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%

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 6306_s1 13 rs438758
dbSNP Clinvar
111155773 100.0 T C PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 6306_s1 13 rs4238272
dbSNP Clinvar
111077197 100.0 G A PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%

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 rs2228555
dbSNP Clinvar
227872995 100.0 T C PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.64058 0.64060 0.41430 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 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%

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 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%
View 6306_s1 X rs2273051
dbSNP Clinvar
107909784 100.0 A G PASS 1/1 26 SYNONYMOUS_CODING LOW None 0.17801 0.17800 0.16056 None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs3747408
dbSNP Clinvar
107850076 100.0 G A PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.14887 0.14890 0.12184 None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs2272945
dbSNP Clinvar
107829907 100.0 G C PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.15046 0.15050 0.12449 None None None None None None COL4A5|0.684108995|8.97%
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 rs61746140
dbSNP Clinvar
107929337 100.0 C T PASS 1/1 28 SYNONYMOUS_CODING LOW None None None None None None None COL4A5|0.684108995|8.97%
View 6306_s1 X rs7884085
dbSNP Clinvar
107845128 100.0 T C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.14993 0.14990 0.11964 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 rs2229495
dbSNP Clinvar
189932831 100.0 T C PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.94289 0.94290 0.03737 None None None None None None COL5A2|0.575233366|12.81%
View 6306_s1 2 rs6434312
dbSNP Clinvar
189907937 100.0 A G PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.02868 None None None None None None COL5A2|0.575233366|12.81%
View 6306_s1 2 rs4128539
dbSNP Clinvar
189974958 100.0 G T PASS 1/1 52 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 6306_s1 21 rs1980982
dbSNP Clinvar
47410931 100.0 T C PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.54493 0.54490 0.37606 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%
View 6306_s1 4 rs3736455
dbSNP Clinvar
187122319 100.0 T G PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.57748 0.57750 0.36007 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 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 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%
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 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 rs2438349
dbSNP Clinvar
90052372 100.0 C T PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.53934 0.53930 0.47965 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 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%

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 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 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%
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%

LRRN1

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 rs4685689
dbSNP Clinvar
3886580 100.0 A G PASS 1/1 51 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%

LTBP2

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 14 rs699374
dbSNP Clinvar
74992800 100.0 A G PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.35335 None None None None None None LTBP2|0.184719306|38.39%
View 6306_s1 14 rs862031
dbSNP Clinvar
74991855 100.0 A G PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.72824 0.72820 0.28618 None None None None None None LTBP2|0.184719306|38.39%

MTOR

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 6306_s1 1 rs1135172
dbSNP Clinvar
11301714 100.0 A G PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.63958 0.63960 0.41466 None None None None None None MTOR|0.997612705|0.59%
View 6306_s1 1 rs1064261
dbSNP Clinvar
11288758 100.0 G A PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.70048 0.70050 0.38244 None None None None None None MTOR|0.997612705|0.59%

MYLK

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 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%

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 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%

PIK3CG

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 6306_s1 7 rs849389
dbSNP Clinvar
106508978 100.0 A G PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.08258 None None None None None None PIK3CG|0.990082262|1.08%
View 6306_s1 7 rs849390
dbSNP Clinvar
106508987 100.0 T C PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.08127 None None None None None None PIK3CG|0.990082262|1.08%

PIK3R1

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 rs3730090
dbSNP Clinvar
67589188 100.0 C T PASS 1/1 12 SYNONYMOUS_CODING LOW None None None None None None None PIK3R1|0.917149804|3.05%
View 6306_s1 5 rs706713
dbSNP Clinvar
67522722 100.0 C T PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.41933 0.41930 0.29333 None None None None None None PIK3R1|0.917149804|3.05%

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 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 rs10932259
dbSNP Clinvar
209184999 100.0 C T PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.07787 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 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%
View 6306_s1 2 rs1529978
dbSNP Clinvar
209191099 100.0 T C PASS 1/1 35 SYNONYMOUS_CODING LOW None 0.99601 0.99600 0.00538 None None None None None None PIKFYVE|0.407766308|20.32%
View 6306_s1 2 rs2118297
dbSNP Clinvar
209214770 100.0 A G PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.91114 0.91110 0.07821 None None None None None None PIKFYVE|0.407766308|20.32%
View 6306_s1 2 rs994697
dbSNP Clinvar
209215586 100.0 A G PASS 1/1 66 SYNONYMOUS_CODING LOW None 0.91114 0.91110 0.07812 None None None None None None PIKFYVE|0.407766308|20.32%

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 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 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 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%
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%

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 rs3827075
dbSNP Clinvar
3214819 100.0 T G PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.47983 0.47980 0.48093 None None None None None None SLC4A11|0.04004945|65.76%
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%

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%

ZEB1

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 rs7918614
dbSNP Clinvar
31750099 100.0 C T PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.08586 0.08586 0.06428 None None None None None None ZEB1|0.848008697|4.69%

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 rs9924504
dbSNP Clinvar
88497031 100.0 T C PASS 1/1 29 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None ZNF469|0.000923153|95.92%
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 rs4782362
dbSNP Clinvar
88505734 100.0 C T PASS 1/1 22 SYNONYMOUS_CODING LOW None 0.98722 0.98720 0.01205 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 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 rs4782301
dbSNP Clinvar
88505635 100.0 A G PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.79633 0.79630 0.22434 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 rs114884145
dbSNP Clinvar
88502572 100.0 C T PASS 1/1 11 SYNONYMOUS_CODING LOW None 0.00459 0.00459 None None None None None None ZNF469|0.000923153|95.92%
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 14 rs862030
dbSNP Clinvar
74991959 100.0 T C PASS 1/1 61 None None None 0.43151 0.43150 0.39882 None None None None None None LTBP2|0.184719306|38.39%
View 6306_s1 14 rs699371
dbSNP Clinvar
74989433 100.0 T C PASS 1/1 60 None None None 0.73642 0.73640 None None None None None None LTBP2|0.184719306|38.39%
View 6306_s1 14 rs7160756
dbSNP Clinvar
74976986 100.0 A G PASS 1/1 16 None None None 0.62760 0.62760 None None None None None None LTBP2|0.184719306|38.39%
View 6306_s1 14 rs3815329
dbSNP Clinvar
74973740 100.0 A G PASS 1/1 34 None None None 0.23882 0.23880 None None None None None None LTBP2|0.184719306|38.39%
View 6306_s1 13 rs401316
dbSNP Clinvar
111155428 100.0 C T PASS 1/1 37 None None None 1.00000 1.00000 None None None None None None COL4A2|0.044971251|64.22%
View 6306_s1 13 rs1983930
dbSNP Clinvar
111137167 100.0 T C PASS 1/1 56 None None None 0.99661 0.99660 None None None None None None COL4A2|0.044971251|64.22%
View 6306_s1 13 rs7326449
dbSNP Clinvar
111099122 100.0 G A PASS 1/1 55 None None None 0.68890 0.68890 0.23115 None None None None None None COL4A2|0.044971251|64.22%
View 6306_s1 13 rs7988186
dbSNP Clinvar
111098338 100.0 A T PASS 1/1 41 None None None 0.99121 0.99120 None None None None None None COL4A2|0.044971251|64.22%
View 6306_s1 13 rs3929758
dbSNP Clinvar
111082157 100.0 C A PASS 1/1 20 None None None 0.73582 0.73580 None None None None None None COL4A2|0.044971251|64.22%
View 6306_s1 13 rs4771678
dbSNP Clinvar
111076940 100.0 T C PASS 1/1 50 None None None 0.73103 0.73100 None None None None None None COL4A2|0.044971251|64.22%
View 6306_s1 13 rs645114
dbSNP Clinvar
110861785 100.0 C G PASS 1/1 110 None None None 0.86122 0.86120 0.14992 None None None None None None COL4A1|0.224151486|33.94%
View 6306_s1 13 rs598819
dbSNP Clinvar
110859690 100.0 A G PASS 1/1 59 None None None 0.98183 0.98180 None None None None None None COL4A1|0.224151486|33.94%
View 6306_s1 13 rs683309
dbSNP Clinvar
110850770 100.0 T C PASS 1/1 44 None None None 0.90136 0.90140 0.13253 None None None None None None COL4A1|0.224151486|33.94%
View 6306_s1 13 rs685884
dbSNP Clinvar
110845314 100.0 G A PASS 1/1 58 None None None 0.75399 0.75400 0.29347 None None None None None None COL4A1|0.224151486|33.94%
View 6306_s1 13 rs503053
dbSNP Clinvar
110831451 100.0 T C PASS 1/1 28 None None None 0.39836 0.39840 None None None None None None COL4A1|0.224151486|33.94%
View 6306_s1 13 rs589985
dbSNP Clinvar
110819586 100.0 G A PASS 1/1 48 None None None 0.65535 0.65540 0.37321 None None None None None None COL4A1|0.224151486|33.94%
View 6306_s1 13 rs1778817
dbSNP Clinvar
110819460 100.0 G A PASS 1/1 48 None None None 0.62700 0.62700 0.39021 None None None None None None COL4A1|0.224151486|33.94%
View 6306_s1 13 rs3737023
dbSNP Clinvar
99540406 100.0 A C PASS 1/1 31 None None None 0.19649 0.19650 0.14406 None None None None None None DOCK9|0.3175759|26.27%