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+ Genes 33

+ Genes associated with diseases 25

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, COL12A1, COL17A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, FOXE3, GSN, IL1RN, KERA, KRT3, LTBP2, MYLK, PIK3R1, 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)
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)
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease with or without ocular anomalies, 175780 (3)
?Retinal arteries, tortuosity of, 180000 (3)
Schizencephaly, 269160 (3)
COL4A2 {Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease 2, 614483 (3)
COL4A3 Alport syndrome 2, autosomal recessive, 203780 (3)
Alport syndrome 3, autosomal dominant, 104200 (3)
Hematuria, benign familial, 141200 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
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)
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)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
PIK3R1 Immunodeficiency 36, 616005 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
SHORT syndrome, 269880 (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, COL12A1, COL17A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, FOXE3, GSN, IL1RN, KERA, KRT3, LTBP2, MYLK, PIK3R1, 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
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Brain small vessel disease with or without ocular anomalies
Anterior segment dysgenesis with cerebral involvement
Porencephaly 1
Retinal artery tortuosity
Schizencephaly
COL4A2 Hemorrhage, intracerebral, susceptibility to
COL4A3 Alport syndrome, autosomal dominant
Alport syndrome, autosomal recessive
COL4A4 Alport syndrome, autosomal recessive
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
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
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
MYLK Aortic aneurysm, familial thoracic 7
PIK3R1 Agammaglobulinemia 7, autosomal recessive
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: 291
Number of Genes: 33

Export to: CSV
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 5 rs35858094
dbSNP Clinvar 		90445829 100.0 T TTC PASS 0/1 40 None None None 0.67372 0.67370 None None None None None None ADGRV1|0.328571635|25.58%
View 12107_s6 20 . 3212223 100.0 AGA TGG PASS 0/1 40 None None None None None None None None None SLC4A11|0.04004945|65.76%
View 12107_s6 20 rs147477986
dbSNP Clinvar 		3212222 100.0 T TG PASS 0/1 40 None None None 0.22943 0.22940 0.23082 None None None None None None SLC4A11|0.04004945|65.76%
View 12107_s6 13 rs11411440,rs397934607
dbSNP Clinvar 		99537790 100.0 T TA R5x9 0/1 29 None None None 0.48982 0.48980 None None None None None None DOCK9|0.3175759|26.27%
View 12107_s6 6 rs34433354,rs879053777,rs397777824
dbSNP Clinvar 		75890933 100.0 T TA PASS 0/1 130 None None None 0.54070 None None None None None None COL12A1|0.494206072|16.13%
View 12107_s6 3 rs202103447
dbSNP Clinvar 		12650847 100.0 T TA PASS 0/1 33 None None None 0.01877 0.01877 0.00056 None None None None None None RAF1|0.540744918|14.17%
View 12107_s6 2 rs59443812,rs397724904
dbSNP Clinvar 		227966298 100.0 T TA PASS 0/1 54 None None None 0.53534 0.53530 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 4 rs66792327
dbSNP Clinvar 		121719584 100.0 T TA PASS 0/1 27 None None None 0.14657 0.14660 0.21037 None None None None None None PRDM5|0.189342478|37.9%
View 12107_s6 20 rs11431377,rs11427085
dbSNP Clinvar 		25057191 100.0 T TA PASS 0/1 70 None None None 0.23083 0.23080 None None None None None None VSX1|0.019829989|74.27%
View 12107_s6 3 rs371409878
dbSNP Clinvar 		123338951 51.0 T TA PASS 0/1 12 None None None None None None None None None MYLK|0.503223171|15.7%
View 12107_s6 13 rs41279134
dbSNP Clinvar 		99566730 100.0 C T PASS 0/1 75 None None None 0.15575 0.15580 None None None None None None DOCK9|0.3175759|26.27%
View 12107_s6 1 rs6675679
dbSNP Clinvar 		94508192 100.0 A T PASS 0/1 83 None None None 0.02676 0.02676 None None None None None None ABCA4|0.440503373|18.63%
View 12107_s6 13 rs12429249
dbSNP Clinvar 		99578219 100.0 C T PASS 0/1 38 None None None 0.16653 0.16650 0.13576 None None None None None None DOCK9|0.3175759|26.27%
View 12107_s6 13 rs3803236
dbSNP Clinvar 		111117745 100.0 C T PASS 0/1 35 None None None 0.51398 0.51400 0.38680 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs2281974
dbSNP Clinvar 		111130519 100.0 C T PASS 0/1 67 None None None 0.46905 0.46900 0.37564 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs2274544
dbSNP Clinvar 		111145633 100.0 C T PASS 0/1 28 None None None 0.12840 0.12840 0.05320 None None None None None None COL4A2|0.044971251|64.22%

LTBP2
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 14 rs372747742
dbSNP Clinvar 		74969440 100.0 C T PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.55 0.00 None None None None None None LTBP2|0.184719306|38.39%
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 14 rs11159087
dbSNP Clinvar 		74971374 100.0 C T PASS 0/1 63 None None None 0.19070 0.19070 None None None None None None LTBP2|0.184719306|38.39%
View 12107_s6 9 rs78743504
dbSNP Clinvar 		137698013 81.0 C T PASS 0/1 24 None None None 0.06090 0.06090 0.03529 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 10 rs813944
dbSNP Clinvar 		105805497 100.0 C T PASS 0/1 44 None None None 0.43610 0.43610 0.43242 None None None None None None COL17A1|0.220252717|34.39%

COL5A1
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 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%
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 rs4147833
dbSNP Clinvar 		94528363 100.0 C T PASS 0/1 47 None None None 0.37360 0.37360 None None None None None None ABCA4|0.440503373|18.63%
View 12107_s6 9 rs76855839
dbSNP Clinvar 		137687183 100.0 C T PASS 0/1 27 None None None 0.04153 0.04153 0.03137 None None None None None None COL5A1|0.207487878|35.85%

KERA
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 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%
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 9 rs4072883
dbSNP Clinvar 		137686906 100.0 C T PASS 0/1 71 None None None 0.69169 0.69170 0.34015 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 9 rs7040856
dbSNP Clinvar 		137655430 100.0 C T PASS 0/1 18 None None None 0.20986 0.20990 None None None None None None COL5A1|0.207487878|35.85%

LTBP2
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 14 rs61505039
dbSNP Clinvar 		74976452 100.0 C T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.06030 0.06030 0.00323 0.01 0.34 None None None None None None LTBP2|0.184719306|38.39%
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 14 rs3742794
dbSNP Clinvar 		75002607 100.0 G T PASS 0/1 55 None None None 0.23862 0.23860 0.25796 None None None None None None LTBP2|0.184719306|38.39%

AGBL1
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 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%
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 9 rs73558067
dbSNP Clinvar 		137645662 100.0 C T PASS 0/1 58 None None None 0.20907 0.20910 0.20978 None None None None None None COL5A1|0.207487878|35.85%

AGBL1
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 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%
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 16 rs76470239
dbSNP Clinvar 		16286586 100.0 C T PASS 0/1 69 None None None 0.23223 0.23220 None None None None None None ABCC6|0.022547171|72.9%

ABCA4
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 1 rs6657239
dbSNP Clinvar 		94564483 100.0 C T PASS 0/1 50 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%

ADAMTS18
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 16 rs35478105
dbSNP Clinvar 		77325325 100.0 G T PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.22784 0.22780 0.36819 0.03 0.13 None None None None None None ADAMTS18|0.112557021|48.75%
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 9 rs3109677
dbSNP Clinvar 		137630568 100.0 C T PASS 0/1 34 None None None 0.56829 0.56830 0.40850 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 16 rs16945464
dbSNP Clinvar 		77326724 100.0 C T PASS 0/1 24 None None None 0.28315 0.28310 None None None None None None ADAMTS18|0.112557021|48.75%

ADAMTS18
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 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%
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 9 rs56385965
dbSNP Clinvar 		137623534 97.0 C T PASS 0/1 14 None None None 0.25939 0.25940 0.18423 None None None None None None COL5A1|0.207487878|35.85%

ITGB1
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 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%
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 9 rs3124302
dbSNP Clinvar 		137620474 100.0 C T PASS 0/1 39 None None None 0.40895 0.40890 0.37137 None None None None None None COL5A1|0.207487878|35.85%

COL5A1
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 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%

ZNF469
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 16 rs3812953
dbSNP Clinvar 		88502482 100.0 C T PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.47005 0.47000 None None None None None None ZNF469|0.000923153|95.92%

SLC4A11
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 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%
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 10 rs4587680
dbSNP Clinvar 		33200782 100.0 C T PASS 0/1 26 None None None 0.10523 0.10520 0.07466 None None None None None None ITGB1|0.816912657|5.38%
View 12107_s6 2 rs3752896
dbSNP Clinvar 		227886925 100.0 C T PASS 0/1 31 None None None 0.44848 0.44850 0.41127 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 5 rs56360530
dbSNP Clinvar 		89925410 100.0 C T PASS 0/1 79 None None None 0.24042 0.24040 None None None None None None ADGRV1|0.328571635|25.58%
View 12107_s6 2 rs59938187
dbSNP Clinvar 		227973878 100.0 C T PASS 0/1 19 None None None 0.28455 0.28450 0.19194 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs12612699
dbSNP Clinvar 		228112439 100.0 C T PASS 0/1 23 None None None 0.08886 0.08886 None None None None None None COL4A3|0.119573089|47.51%
View 12107_s6 5 rs3730087
dbSNP Clinvar 		67587994 100.0 C T PASS 0/1 34 None None None 0.64437 0.64440 None None None None None None PIK3R1|0.917149804|3.05%

LRRN1
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 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%

PIK3R1
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 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%

MYLK
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 3 rs3732487
dbSNP Clinvar 		123419573 100.0 G T PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.22604 0.22600 0.05013 0.62 0.01 None None None None None None MYLK|0.503223171|15.7%
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12107_s6 4 rs12507359
dbSNP Clinvar 		121719307 100.0 A T PASS 0/1 60 None None None 0.13718 0.13720 None None None None None None PRDM5|0.189342478|37.9%
View 12107_s6 13 rs2296998
dbSNP Clinvar 		99537942 100.0 G T PASS 0/1 31 None None None 0.15435 0.15440 0.10878 None None None None None None DOCK9|0.3175759|26.27%
View 12107_s6 13 rs2274642
dbSNP Clinvar 		99537217 100.0 G T PASS 0/1 75 None None None 0.67213 0.67210 0.27182 None None None None None None DOCK9|0.3175759|26.27%

COL4A4
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 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%
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 2 rs2272204
dbSNP Clinvar 		227915601 100.0 G T PASS 0/1 24 None None None 0.54732 0.54730 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs16823202
dbSNP Clinvar 		227966148 100.0 C T PASS 0/1 54 None None None 0.58367 0.58370 0.34376 None None None None None None COL4A4|0.099677436|51.24%

VSX1
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 20 rs56157240
dbSNP Clinvar 		25059381 100.0 A T PASS 0/1 14 None None None 0.29054 0.29050 0.30157 None None None None None None VSX1|0.019829989|74.27%
View 12107_s6 20 rs6138482
dbSNP Clinvar 		25059442 80.0 C T PASS 0/1 14 None None None 0.21566 0.21570 0.14539 0.11 0.00 None None None None None None VSX1|0.019829989|74.27%
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 20 rs6050306
dbSNP Clinvar 		25062145 100.0 C T PASS 0/1 41 None None None 0.29054 0.29050 None None None None None None VSX1|0.019829989|74.27%

PIK3CG
Omim - GeneCards - NCBI
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 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%
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 7 rs5745752
dbSNP Clinvar 		81335460 88.0 C T PASS 0/1 19 None None None 0.26977 0.26980 None None None None None None HGF|0.997497848|0.6%
View 12107_s6 7 rs10280418
dbSNP Clinvar 		20784677 95.0 C T PASS 0/1 15 None None None 0.82987 0.82990 None None None None None None ABCB5|0.12579132|46.5%
View 12107_s6 X rs759051866
dbSNP Clinvar 		107840209 23.0 TTG T q30 0/1 10 None None None 0.03312 None None None None None None COL4A5|0.684108995|8.97%
View 12107_s6 2 rs76825495
dbSNP Clinvar 		1687646 100.0 G T PASS 0/1 19 None None None 0.04193 0.04193 None None None None None None PXDN|0.054174855|61.43%
View 12107_s6 2 rs3783550
dbSNP Clinvar 		113532885 100.0 G T PASS 0/1 30 None None None 0.62041 0.62040 0.27410 None None None None None None IL1A|0.061904186|59.36%
View 12107_s6 13 rs2296986
dbSNP Clinvar 		99483856 100.0 C T PASS 0/1 34 None None None 0.16633 0.16630 0.16540 None None None None None None DOCK9|0.3175759|26.27%
View 12107_s6 6 rs184766
dbSNP Clinvar 		75857907 100.0 C T PASS 0/1 36 None None None 0.35463 0.35460 None None None None None None COL12A1|0.494206072|16.13%

FOXE3
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 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%
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 2 rs928940
dbSNP Clinvar 		113877495 100.0 G T PASS 0/1 108 None None None 0.70907 0.70910 None None None None None None IL1RN|0.11539686|48.22%
View 12107_s6 6 rs1332020
dbSNP Clinvar 		75844600 100.0 C T PASS 0/1 78 None None None 0.46086 0.46090 0.41461 None None None None None None COL12A1|0.494206072|16.13%
View 12107_s6 2 rs7606415
dbSNP Clinvar 		135762980 100.0 C T PASS 0/1 29 None None None 0.34046 0.34050 0.23589 None None None None None None MAP3K19|0.070109416|57.46%
View 12107_s6 6 rs620129
dbSNP Clinvar 		75830847 100.0 G T PASS 0/1 55 None None None 0.75699 0.75700 None None None None None None COL12A1|0.494206072|16.13%

COL12A1
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 6 rs970547
dbSNP Clinvar 		75797302 92.0 C T PASS 0/1 17 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%
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 2 rs4423583
dbSNP Clinvar 		227874957 100.0 C T PASS 0/1 35 None None None 0.51657 0.51660 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 5 rs1344030
dbSNP Clinvar 		89938434 100.0 G T PASS 0/1 66 None None None 0.24042 0.24040 0.17018 None None None None None None ADGRV1|0.328571635|25.58%
View 12107_s6 13 rs2296996
dbSNP Clinvar 		99536215 100.0 C T PASS 0/1 28 None None None 0.62680 0.62680 None None None None None None DOCK9|0.3175759|26.27%

COL4A4
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 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 rs2229813
dbSNP Clinvar 		227892720 100.0 C T PASS 0/1 85 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%
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%
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 2 . 228153667 100.0 G GT PASS 0/1 23 None None None None None None None None None COL4A3|0.119573089|47.51%
View 12107_s6 4 rs376655850,rs754105119,rs36062004
dbSNP Clinvar 		121739411 100.0 G GCA PASS 0/1 31 None None None 0.02077 0.02077 None None None None None None PRDM5|0.189342478|37.9%
View 12107_s6 4 rs71597093
dbSNP Clinvar 		121631375 100.0 G GAT PASS 0/1 46 None None None None None None None None None PRDM5|0.189342478|37.9%
View 12107_s6 16 rs764667708,rs11410820
dbSNP Clinvar 		77359575 100.0 G GA PASS 0/1 19 None None None None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 14 rs3815329
dbSNP Clinvar 		74973740 100.0 A G PASS 0/1 33 None None None 0.23882 0.23880 None None None None None None LTBP2|0.184719306|38.39%

KRT3
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 rs749273979
dbSNP Clinvar 		53188074 100.0 C G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None KRT3|0.041114774|65.41%

SFTPD
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 rs721917
dbSNP Clinvar 		81706324 100.0 A G PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.50459 0.50460 0.41358 0.32 0.00 None None None None None None SFTPD|0.023000884|72.72%
Omim - GeneCards - NCBI
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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 rs80132666
dbSNP Clinvar 		33196108 100.0 GA G PASS 0/1 18 None None None 0.12340 0.12340 0.07186 None None None None None None ITGB1|0.816912657|5.38%
View 12107_s6 9 rs3811149
dbSNP Clinvar 		137708803 100.0 A G PASS 0/1 57 None None None 0.59225 0.59230 0.35545 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 9 rs142676375,rs368760930
dbSNP Clinvar 		137688780 100.0 GC... G PASS 0/1 26 None None None 0.45747 0.45750 0.35123 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 9 rs3811160
dbSNP Clinvar 		137688624 100.0 A G PASS 0/1 30 None None None 0.59685 0.59680 0.44788 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 9 rs4072882
dbSNP Clinvar 		137687038 100.0 A G PASS 0/1 99 None None None 0.69389 0.69390 0.34385 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 9 rs12685946
dbSNP Clinvar 		137642478 100.0 A G PASS 0/1 126 None None None 0.29952 0.29950 0.31040 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 9 rs3124308
dbSNP Clinvar 		137622033 100.0 A G PASS 0/1 60 None None None 0.40815 0.40810 0.37142 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 9 rs2289069
dbSNP Clinvar 		124088731 100.0 A G PASS 0/1 31 None None None 0.11322 0.11320 None None None None None None GSN|0.728577212|7.7%
View 12107_s6 7 . 20739336 71.0 GA G R5x9 0/1 34 None None None None None None None None None ABCB5|0.12579132|46.5%

COL12A1
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 6 rs240736
dbSNP Clinvar 		75848181 100.0 A G PASS 0/1 50 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%
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 5 rs13168506
dbSNP Clinvar 		135396452 100.0 A G PASS 0/1 24 None None None 0.59565 0.59560 None None None None None None TGFBI|0.999587957|0.3%
View 12107_s6 5 rs3749605
dbSNP Clinvar 		90398014 100.0 A G PASS 0/1 76 None None None 0.10643 0.10640 0.04995 None None None None None None ADGRV1|0.328571635|25.58%