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Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL4A2, COL4A3, COL4A4, COL5A1, COL5A2, CYP4V2, FOXE3, GSN, IL1RN, KERA, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, PIK3R1, PIKFYVE, PRDM5, PXDN, SLC4A11, 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)
COL4A2 {Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease 2, 614483 (3)
COL4A3 Alport syndrome 2, autosomal recessive, 203780 (3)
Alport syndrome 3, autosomal dominant, 104200 (3)
Hematuria, benign familial, 141200 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COL5A2 Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
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)
GSN Amyloidosis, Finnish type, 105120 (3)
IL1RN {Gastric cancer risk after H. pylori infection}, 137215 (3)
{Microvascular complications of diabetes 4}, 612628 (3)
Interleukin 1 receptor antagonist deficiency, 612852 (3)
KERA Cornea plana 2, autosomal recessive, 217300 (3)
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)
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)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (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, COL4A2, COL4A3, COL4A4, COL5A1, COL5A2, CYP4V2, FOXE3, GSN, IL1RN, KERA, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, PIK3R1, PIKFYVE, PRDM5, PXDN, SLC4A11, 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
COL4A2 Hemorrhage, intracerebral, susceptibility to
COL4A3 Alport syndrome, autosomal dominant
Alport syndrome, autosomal recessive
COL4A4 Alport syndrome, autosomal recessive
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COL5A2 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
FOXE3 Aphakia, congenital primary
Anterior segment mesenchymal dysgenesis
GSN Amyloidosis, Finnish type
IL1RN Osteomyelitis, sterile multifocal, with periostitis and pustulosis
KERA Cornea plana 2, autosomal recessive
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
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PIKFYVE Corneal fleck dystrophy
PRDM5 Brittle cornea syndrome 2
PXDN Corneal opacification with other ocular anomalies
SLC4A11 Cryohydrocytosis
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: 111
Number of Genes: 40

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 12107_s6 1 rs4147831
dbSNP Clinvar
94544233 100.0 G A PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.09457 None None None None None None ABCA4|0.440503373|18.63%
View 12107_s6 1 rs4847281
dbSNP Clinvar
94578548 100.0 T C PASS 1/1 12 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%
View 12107_s6 1 rs1762114
dbSNP Clinvar
94471075 100.0 A G PASS 1/1 21 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 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 12107_s6 7 rs10254317
dbSNP Clinvar
20768013 100.0 G A PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.59605 0.59600 0.47801 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 12107_s6 16 rs9930886
dbSNP Clinvar
16291983 100.0 A G PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.28275 0.28270 0.31330 None None None None None None ABCC6|0.022547171|72.9%
View 12107_s6 16 rs7500834
dbSNP Clinvar
16272670 100.0 T C PASS 1/1 97 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 12107_s6 16 rs35296483
dbSNP Clinvar
77327018 100.0 G A PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.12420 0.12420 0.09449 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs8059275
dbSNP Clinvar
77389956 100.0 A G PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.88219 0.88220 0.12527 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs12935229
dbSNP Clinvar
77328895 100.0 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.09380 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 12107_s6 15 rs1353578
dbSNP Clinvar
86800209 100.0 C T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.53974 0.53970 0.35463 None None None None None None AGBL1|0.082073978|54.74%
View 12107_s6 15 rs11858435
dbSNP Clinvar
86814866 100.0 A G PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.68211 0.68210 0.26808 None None None None None None AGBL1|0.082073978|54.74%
View 12107_s6 15 rs10520618
dbSNP Clinvar
86807761 100.0 A G PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.50539 0.50540 0.47409 None None None None None None AGBL1|0.082073978|54.74%
View 12107_s6 15 rs1566088
dbSNP Clinvar
86806029 100.0 C T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.30818 None None None None None None AGBL1|0.082073978|54.74%
View 12107_s6 15 rs1006030
dbSNP Clinvar
87531281 100.0 A C PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.19396 None None None None None None AGBL1|0.082073978|54.74%
View 12107_s6 15 rs4362360
dbSNP Clinvar
86940622 100.0 T C PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.74421 0.74420 0.39279 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 12107_s6 11 rs1800009
dbSNP Clinvar
61730234 100.0 T C PASS 1/1 43 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 12107_s6 11 rs1109748
dbSNP Clinvar
61722645 100.0 C A PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.31749 0.31750 0.07653 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 12107_s6 6 rs594012
dbSNP Clinvar
75841722 100.0 A T PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.88618 0.88620 0.11774 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 12107_s6 10 rs805701
dbSNP Clinvar
105819956 100.0 G A PASS 1/1 22 SYNONYMOUS_CODING LOW None 0.55252 0.55250 0.44480 None None None None None None COL17A1|0.220252717|34.39%
View 12107_s6 10 rs4918079
dbSNP Clinvar
105801253 100.0 G A PASS 1/1 14 SYNONYMOUS_CODING LOW None 0.67392 0.67390 0.28187 None None None None None None COL17A1|0.220252717|34.39%
View 12107_s6 10 rs2274100
dbSNP Clinvar
105798872 100.0 T C PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.68151 0.68150 0.27749 None None None None None None COL17A1|0.220252717|34.39%
View 12107_s6 10 rs2476958
dbSNP Clinvar
105796819 100.0 A G PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.98602 0.98600 0.01377 None None None None None None COL17A1|0.220252717|34.39%

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 12107_s6 13 rs445348
dbSNP Clinvar
111158874 100.0 A G PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs4103
dbSNP Clinvar
111098226 100.0 C T PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.48987 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs76425569
dbSNP Clinvar
111102042 100.0 G A PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.23862 0.23860 0.26285 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs74941798
dbSNP Clinvar
111102126 100.0 C T PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.24681 0.24680 0.28476 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs7990214
dbSNP Clinvar
111111173 100.0 G A PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.49141 0.49140 0.37904 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs529755589
dbSNP Clinvar
111130369 100.0 G A PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs439831
dbSNP Clinvar
111154058 100.0 T A PASS 1/1 102 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs4238272
dbSNP Clinvar
111077197 100.0 G A PASS 1/1 32 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs409858
dbSNP Clinvar
111154061 100.0 T C PASS 1/1 102 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs438758
dbSNP Clinvar
111155773 100.0 T C PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs4771683
dbSNP Clinvar
111156499 100.0 C T PASS 1/1 26 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 12107_s6 2 rs10205042
dbSNP Clinvar
228128540 100.0 C T PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.76757 0.76760 0.28196 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 12107_s6 2 rs2228557
dbSNP Clinvar
227872182 100.0 G A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.51438 0.51440 0.46041 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs10203363
dbSNP Clinvar
227896976 100.0 C T PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.49501 0.49500 0.45120 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs2229812
dbSNP Clinvar
227896886 100.0 C T PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.49561 0.49560 0.45256 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs2228556
dbSNP Clinvar
227892619 100.0 C T PASS 0/1 102 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.45464 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs2228555
dbSNP Clinvar
227872995 100.0 T C PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.64058 0.64060 0.41430 None None None None None None COL4A4|0.099677436|51.24%

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 12107_s6 9 rs78511105
dbSNP Clinvar
137688741 100.0 C T PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.04153 0.04153 0.03160 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 9 rs2228560
dbSNP Clinvar
137711997 100.0 G C PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.01937 0.01937 0.42519 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 9 rs3124299
dbSNP Clinvar
137619195 100.0 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.34265 0.34270 0.33215 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 12107_s6 2 rs4128539
dbSNP Clinvar
189974958 100.0 G T PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.88858 0.88860 0.06005 None None None None None None COL5A2|0.575233366|12.81%
View 12107_s6 2 rs2229495
dbSNP Clinvar
189932831 100.0 T C PASS 1/1 18 SYNONYMOUS_CODING LOW None 0.94289 0.94290 0.03737 None None None None None None COL5A2|0.575233366|12.81%
View 12107_s6 2 rs10197596
dbSNP Clinvar
189904233 100.0 T G PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.11122 0.11120 0.09257 None None None None None None COL5A2|0.575233366|12.81%
View 12107_s6 2 rs10208525
dbSNP Clinvar
189904203 100.0 A G PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.10943 0.10940 0.09319 None None None None None None COL5A2|0.575233366|12.81%
View 12107_s6 2 rs6434312
dbSNP Clinvar
189907937 100.0 A G PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.02868 None None None None None None COL5A2|0.575233366|12.81%

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 12107_s6 4 rs3736456
dbSNP Clinvar
187122355 100.0 T C PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.16274 0.16270 0.05697 None None None None None None CYP4V2|0.027940176|70.46%

DOCK9

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 12107_s6 13 rs12428661
dbSNP Clinvar
99575568 100.0 G A PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.00040 0.16750 0.13827 None None None None None None DOCK9|0.3175759|26.27%
View 12107_s6 13 rs2296984
dbSNP Clinvar
99457431 100.0 T G PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.20587 0.20590 0.19774 None None None None None None DOCK9|0.3175759|26.27%

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 12107_s6 1 rs34082359
dbSNP Clinvar
47882497 100.0 C T PASS 0/1 18 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
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 5 rs16876822
dbSNP Clinvar
89989779 100.0 G A PASS 1/1 22 SYNONYMOUS_CODING LOW None 0.32209 0.32210 0.29030 None None None None None None ADGRV1|0.328571635|25.58%
View 12107_s6 5 rs13158963
dbSNP Clinvar
90449154 100.0 G A PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.13818 0.13820 0.11756 None None None None None None ADGRV1|0.328571635|25.58%
View 12107_s6 5 rs571159068
dbSNP Clinvar
90149194 100.0 G A PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.00060 0.00060 None None None None None None ADGRV1|0.328571635|25.58%
View 12107_s6 5 rs2438349
dbSNP Clinvar
90052372 100.0 C T PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.53934 0.53930 0.47965 None None None None None None ADGRV1|0.328571635|25.58%
View 12107_s6 5 rs16869042
dbSNP Clinvar
90020923 100.0 T G PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.29627 None None None None None None ADGRV1|0.328571635|25.58%

GSN

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 9 rs9102
dbSNP Clinvar
124094800 100.0 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.12440 0.12440 0.05413 None None None None None None GSN|0.728577212|7.7%

IL1RN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 2 rs315952
dbSNP Clinvar
113890304 100.0 T C PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.35004 0.35000 0.33315 None None None None None None IL1RN|0.11539686|48.22%

ITGB1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 10 rs147320657
dbSNP Clinvar
33208944 100.0 C T PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.00359 0.00359 None None None None None None ITGB1|0.816912657|5.38%
View 12107_s6 10 rs2298139
dbSNP Clinvar
33200468 100.0 G A PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.11921 0.11920 0.05085 None None None None None None ITGB1|0.816912657|5.38%
View 12107_s6 10 rs2230396
dbSNP Clinvar
33209266 100.0 G T PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.78455 0.78450 0.17446 None None None None None None ITGB1|0.816912657|5.38%

KERA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 12 rs2735333
dbSNP Clinvar
91449990 100.0 C T PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.62001 0.62000 0.36689 None None None None None None KERA|0.287600325|28.54%

KRT13

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 17 rs8182306
dbSNP Clinvar
39661689 100.0 G A PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.85503 0.85500 0.13248 None None None None None None KRT13|0.071438602|57.11%

KRT16

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 17 rs4796681
dbSNP Clinvar
39767744 100.0 A G PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.77416 0.77420 0.37168 None None None None None None KRT16|0.063740015|58.95%

KRT23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 17 rs8037
dbSNP Clinvar
39081713 100.0 A G PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.57089 0.57090 0.44103 None None None None None None KRT23|0.054190188|61.41%

KRT3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 12 rs4432093
dbSNP Clinvar
53186122 100.0 G A PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.78774 0.78770 0.18937 None None None None None None KRT3|0.041114774|65.41%

LRRN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 3 rs3749350
dbSNP Clinvar
3886721 75.0 C A PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.00539 0.29110 0.20560 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 12107_s6 3 rs2120609
dbSNP Clinvar
3887876 100.0 T C PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.47844 0.47840 0.36891 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 12107_s6 3 rs3749348
dbSNP Clinvar
3886919 100.0 C T PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.21166 0.21170 0.16046 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 12107_s6 3 rs3749349
dbSNP Clinvar
3886847 100.0 G C PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.21366 0.21370 0.16170 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 12107_s6 3 rs4685689
dbSNP Clinvar
3886580 100.0 A G PASS 1/1 69 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 14 rs699374
dbSNP Clinvar
74992800 100.0 A G PASS 1/1 31 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.35335 None None None None None None LTBP2|0.184719306|38.39%
View 12107_s6 14 rs862031
dbSNP Clinvar
74991855 100.0 A G PASS 1/1 93 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 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 12107_s6 1 rs1064261
dbSNP Clinvar
11288758 100.0 G A PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.70048 0.70050 0.38244 None None None None None None MTOR|0.997612705|0.59%
View 12107_s6 1 rs1057079
dbSNP Clinvar
11205058 100.0 C T PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.45410 None None None None None None MTOR|0.997612705|0.59%

MYLK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 3 rs1254392
dbSNP Clinvar
123368013 100.0 A G PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.39617 0.39620 0.22459 None None None None None None MYLK|0.503223171|15.7%
View 12107_s6 3 rs820463
dbSNP Clinvar
123357037 100.0 A G PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.37440 0.37440 0.19791 None None None None None None MYLK|0.503223171|15.7%
View 12107_s6 3 rs40305
dbSNP Clinvar
123411589 100.0 G A PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.33267 0.33270 0.43665 None None None None None None MYLK|0.503223171|15.7%
View 12107_s6 3 rs4678047
dbSNP Clinvar
123452838 100.0 G A PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.63279 0.63280 0.42565 None None None None None None MYLK|0.503223171|15.7%

PIK3CG

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 7 rs849390
dbSNP Clinvar
106508987 100.0 T C PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.08127 None None None None None None PIK3CG|0.990082262|1.08%
View 12107_s6 7 rs1129293
dbSNP Clinvar
106513011 100.0 C T PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.25379 0.25380 0.23889 None None None None None None PIK3CG|0.990082262|1.08%
View 12107_s6 7 rs849389
dbSNP Clinvar
106508978 100.0 A G PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.08258 None None None None None None PIK3CG|0.990082262|1.08%

PIK3R1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 5 rs17847317
dbSNP Clinvar
67589182 100.0 T C PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.00008 None None None None None None PIK3R1|0.917149804|3.05%
View 12107_s6 5 rs706713
dbSNP Clinvar
67522722 77.0 C T PASS 0/1 16 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 2 rs2118297
dbSNP Clinvar
209214770 100.0 A G PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.91114 0.91110 0.07821 None None None None None None PIKFYVE|0.407766308|20.32%
View 12107_s6 2 rs10932259
dbSNP Clinvar
209184999 100.0 C T PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.07787 None None None None None None PIKFYVE|0.407766308|20.32%
View 12107_s6 2 rs1529978
dbSNP Clinvar
209191099 100.0 T C PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.99601 0.99600 0.00538 None None None None None None PIKFYVE|0.407766308|20.32%
View 12107_s6 2 rs994697
dbSNP Clinvar
209215586 100.0 A G PASS 1/1 115 SYNONYMOUS_CODING LOW None 0.91114 0.91110 0.07812 None None None None None None PIKFYVE|0.407766308|20.32%
View 12107_s6 2 rs2304545
dbSNP Clinvar
209212707 100.0 G A PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.71605 0.71610 0.31693 None None None None None None PIKFYVE|0.407766308|20.32%

PRDM5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 4 rs12499000
dbSNP Clinvar
121706201 100.0 A G PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.13738 0.13740 0.19983 None None None None None None PRDM5|0.189342478|37.9%
View 12107_s6 4 rs343192
dbSNP Clinvar
121738049 100.0 T C PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.27496 0.27500 0.28126 None None None None None None PRDM5|0.189342478|37.9%

PXDN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 2 rs1863135
dbSNP Clinvar
1652822 100.0 T G PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.93550 0.93550 0.10085 None None None None None None PXDN|0.054174855|61.43%
View 12107_s6 2 rs17841813
dbSNP Clinvar
1664654 100.0 A G PASS 1/1 79 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81090 0.81090 0.28651 None None None None None None PXDN|0.054174855|61.43%
View 12107_s6 2 rs3811613
dbSNP Clinvar
1652660 100.0 G A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.24481 0.24480 0.25024 None None None None None None PXDN|0.054174855|61.43%
View 12107_s6 2 rs6730800
dbSNP Clinvar
1647171 100.0 T C PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.90775 0.90770 0.13656 None None None None None None PXDN|0.054174855|61.43%

SLC4A11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 20 rs3803956
dbSNP Clinvar
3214581 100.0 C T PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.16633 0.16630 0.18622 None None None None None None SLC4A11|0.04004945|65.76%

TGFBI

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 5 rs1442
dbSNP Clinvar
135382989 100.0 G C PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.31769 0.31770 0.34348 None None None None None None TGFBI|0.999587957|0.3%

TLN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 9 rs11541908
dbSNP Clinvar
35705759 100.0 G A PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.16913 0.16910 0.19683 None None None None None None TLN1|0.598640538|11.8%

VSX1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 20 rs12480307
dbSNP Clinvar
25059546 100.0 T C PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.29034 0.29030 0.29948 None None None None None None VSX1|0.019829989|74.27%