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+ Genes 50

+ Genes associated with diseases 36

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL5A1, COL5A2, COL6A1, COL8A2, CYP4V2, FOXE3, IL1RN, KRT12, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, PRDM5, PXDN, SIX5, SLC4A11, TCF4, TGFBI, VSX1, ZNF469,
ABCA4 Fundus flavimaculatus, 248200 (3)
{Macular degeneration, age-related, 2}, 153800 (3)
Cone-rod dystrophy 3, 604116 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)
COL12A1 Bethlem myopathy 2, 616471 (3)
?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease with or without ocular anomalies, 175780 (3)
?Retinal arteries, tortuosity of, 180000 (3)
Schizencephaly, 269160 (3)
COL4A2 {Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease 2, 614483 (3)
COL4A3 Alport syndrome 2, autosomal recessive, 203780 (3)
Alport syndrome 3, autosomal dominant, 104200 (3)
Hematuria, benign familial, 141200 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COL5A2 Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
COL8A2 Corneal dystrophy, Fuchs endothelial, 1, 136800 (3)
Corneal dystrophy, posterior polymorphous 2, 609140 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
FOXE3 Anterior segment dysgenesis 2, multiple subtypes, 610256 (3)
Cataract 34, multiple types, 612968 (3)
{Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)
IL1RN {Gastric cancer risk after H. pylori infection}, 137215 (3)
{Microvascular complications of diabetes 4}, 612628 (3)
Interleukin 1 receptor antagonist deficiency, 612852 (3)
KRT12 Meesmann corneal dystrophy, 122100 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MTOR Focal cortical dysplasia, type II, somatic, 607341 (3)
Smith-Kingsmore syndrome, 616638 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
NLRP1 Autoinflammation with arthritis and dyskeratosis, 617388 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
Palmoplantar carcinoma, multiple self-healing, 615225 (3)
PIK3R1 Immunodeficiency 36, 616005 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
SHORT syndrome, 269880 (3)
PIKFYVE Corneal fleck dystrophy, 121850 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
TGFBI Corneal dystrophy, Avellino type, 607541 (3)
Corneal dystrophy, Groenouw type I, 121900 (3)
Corneal dystrophy, Reis-Bucklers type, 608470 (3)
Corneal dystrophy, Thiel-Behnke type, 602082 (3)
Corneal dystrophy, epithelial basement membrane, 121820 (3)
Corneal dystrophy, lattice type I, 122200 (3)
Corneal dystrophy, lattice type IIIA, 608471 (3)
VSX1 Keratoconus 1, 148300 (3)
?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL5A1, COL5A2, COL6A1, COL8A2, CYP4V2, FOXE3, IL1RN, KRT12, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, PRDM5, PXDN, SIX5, SLC4A11, TCF4, TGFBI, VSX1, ZNF469,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
ABCC6 Pseudoxanthoma elasticum
ADAMTS18 Knobloch syndrome 2
Microcornea, myopic chorioretinal atrophy, and telecanthus
Retinal dystrophy, early onset, autosomal recessive
AGBL1 Corneal dystrophy, Fuchs endothelial, 8
BEST1 Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Brain small vessel disease with or without ocular anomalies
Anterior segment dysgenesis with cerebral involvement
Porencephaly 1
Retinal artery tortuosity
Schizencephaly
COL4A2 Hemorrhage, intracerebral, susceptibility to
COL4A3 Alport syndrome, autosomal dominant
Alport syndrome, autosomal recessive
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COL5A2 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
COL8A2 Corneal dystrophy polymorphous posterior, 2
Corneal dystrophy, Fuchs endothelial, 1
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
FOXE3 Aphakia, congenital primary
Anterior segment mesenchymal dysgenesis
IL1RN Osteomyelitis, sterile multifocal, with periostitis and pustulosis
KRT12 Meesmann corneal dystrophy
KRT13 White sponge nevus 2
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
KRT3 Meesmann corneal dystrophy
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MTOR Smith-Kingsmore syndrome
MYLK Aortic aneurysm, familial thoracic 7
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PIKFYVE Corneal fleck dystrophy
PRDM5 Brittle cornea syndrome 2
PXDN Corneal opacification with other ocular anomalies
SIX5 Branchiootorenal syndrome 2
SLC4A11 Cryohydrocytosis
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
TGFBI Corneal dystrophy, lattice type I
Corneal dystrophy, lattice type IIIA
Corneal dystrophy of Bowman layer, type I
Corneal dystrophy, Avellino type
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, Groenouw type I
Corneal dystrophy, epithelial basement membrane
VSX1 Craniofacial anomalies and anterior segment dysgenesis syndrome
Keratoconus 1
Corneal dystrophy, posterior polymorphous
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 625
Number of Genes: 50

Export to: CSV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 2 . 1642537 100.0 TGC CGT PASS 1/1 73 None None None None None None None None None PXDN|0.054174855|61.43%
View 6424_s25 2 rs6742039
dbSNP Clinvar 		1642545 100.0 C G PASS 1/1 72 None None None 0.87820 0.87820 None None None None None None PXDN|0.054174855|61.43%

PXDN
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 6424_s25 2 rs6730800
dbSNP Clinvar 		1647171 100.0 T C PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.90775 0.90770 0.13656 None None None None None None PXDN|0.054174855|61.43%
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 6424_s25 2 rs11685976
dbSNP Clinvar 		1651842 100.0 C A PASS 0/1 54 None None None 0.24481 0.24480 None None None None None None PXDN|0.054174855|61.43%

PXDN
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 6424_s25 2 rs3811613
dbSNP Clinvar 		1652660 100.0 G A PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.24481 0.24480 0.25024 None None None None None None PXDN|0.054174855|61.43%
View 6424_s25 2 rs1863135
dbSNP Clinvar 		1652822 100.0 T G PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.93550 0.93550 0.10085 None None None None None None PXDN|0.054174855|61.43%
View 6424_s25 2 rs17841813
dbSNP Clinvar 		1664654 100.0 A G PASS 1/1 64 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81090 0.81090 0.28651 None None None None None None PXDN|0.054174855|61.43%
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 6424_s25 20 rs2281575
dbSNP Clinvar 		3209371 100.0 G A PASS 0/1 73 None None None 0.49421 0.49420 0.39401 None None None None None None SLC4A11|0.04004945|65.76%
View 6424_s25 20 rs3810561
dbSNP Clinvar 		3211064 100.0 A C PASS 1/1 30 None None None 0.78834 0.78830 None None None None None None SLC4A11|0.04004945|65.76%
View 6424_s25 20 rs3803953
dbSNP Clinvar 		3211719 100.0 T G PASS 0/1 31 None None None 0.40056 0.40060 None None None None None None SLC4A11|0.04004945|65.76%

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 6424_s25 20 rs3827075
dbSNP Clinvar 		3214819 100.0 T G PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.47983 0.47980 0.48093 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 6424_s25 20 rs3803957
dbSNP Clinvar 		3215548 100.0 C A PASS 1/1 48 None None None 0.27236 0.27240 0.25927 None None None None None None SLC4A11|0.04004945|65.76%
View 6424_s25 20 rs3827076
dbSNP Clinvar 		3218355 100.0 C G PASS 1/1 34 None None None 0.45028 0.45030 0.43165 None None None None None None SLC4A11|0.04004945|65.76%

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 6424_s25 20 rs3810562
dbSNP Clinvar 		3218634 100.0 G C PASS 1/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.64157 0.64160 0.67 0.00 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 6424_s25 20 rs6084314
dbSNP Clinvar 		3219692 100.0 C T PASS 0/1 38 None None None 0.41154 0.41150 None None None None None None SLC4A11|0.04004945|65.76%
View 6424_s25 3 rs3749351
dbSNP Clinvar 		3886180 100.0 T C PASS 1/1 57 START_GAINED LOW None 0.69768 0.69770 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%

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 6424_s25 3 rs4685689
dbSNP Clinvar 		3886580 100.0 A G PASS 1/1 78 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%
View 6424_s25 3 rs9844909
dbSNP Clinvar 		3887093 100.0 A G PASS 0/1 56 SYNONYMOUS_CODING LOW None 0.25200 0.25200 0.20094 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 6424_s25 3 rs2120609
dbSNP Clinvar 		3887876 100.0 T C PASS 0/1 58 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%
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 6424_s25 17 rs12946467
dbSNP Clinvar 		5424129 100.0 C G PASS 0/1 56 None None None 0.20927 0.20930 None None None None None None NLRP1|0.001451196|93.02%
View 6424_s25 17 rs12944976
dbSNP Clinvar 		5424376 100.0 G A PASS 0/1 34 None None None 0.20288 0.20290 0.32677 None None None None None None NLRP1|0.001451196|93.02%

NLRP1
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 6424_s25 17 . 5425076 100.0 AT GC PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.00 None None None None None None NLRP1|0.001451196|93.02%
View 6424_s25 17 rs884367
dbSNP Clinvar 		5487164 100.0 C G PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.28315 0.28310 0.12991 None None None None None None NLRP1|0.001451196|93.02%
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 6424_s25 1 rs2275525
dbSNP Clinvar 		11169676 100.0 C T PASS 0/1 48 None None None 0.15915 0.15910 0.08365 None None None None None None MTOR|0.997612705|0.59%
View 6424_s25 1 rs17235654
dbSNP Clinvar 		11174331 100.0 T C PASS 0/1 77 None None None 0.10463 0.10460 0.05920 None None None None None None MTOR|0.997612705|0.59%
View 6424_s25 1 rs17235633
dbSNP Clinvar 		11181457 100.0 G T PASS 0/1 160 None None None 0.09704 0.09704 0.05098 None None None None None None MTOR|0.997612705|0.59%
View 6424_s25 1 rs868080
dbSNP Clinvar 		11184489 100.0 C T PASS 0/1 50 None None None 0.15875 0.15870 None None None None None None MTOR|0.997612705|0.59%
View 6424_s25 1 rs3737611
dbSNP Clinvar 		11186897 100.0 A G PASS 0/1 62 None None None 0.17272 0.17270 0.09488 None None None None None None MTOR|0.997612705|0.59%
View 6424_s25 1 rs3730381
dbSNP Clinvar 		11194591 100.0 G A PASS 0/1 81 None None None 0.09724 0.09724 None None None None None None MTOR|0.997612705|0.59%

MTOR
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 6424_s25 1 rs1057079
dbSNP Clinvar 		11205058 100.0 C T PASS 0/1 31 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.45410 None None None None None None MTOR|0.997612705|0.59%
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 6424_s25 1 rs2275942
dbSNP Clinvar 		11206690 100.0 A T PASS 0/1 74 None None None 0.09704 0.09704 0.05090 None None None None None None MTOR|0.997612705|0.59%

ANGPTL7
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 6424_s25 1 rs2076658
dbSNP Clinvar 		11255008 100.0 T C PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.09844 0.09844 0.05105 None None None None None None MTOR|0.997612705|0.59%,ANGPTL7|0.164614125|40.97%
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 6424_s25 1 rs11121697
dbSNP Clinvar 		11259830 100.0 A C PASS 0/1 64 None None None 0.09704 0.09704 None None None None None None MTOR|0.997612705|0.59%
View 6424_s25 1 rs12116957
dbSNP Clinvar 		11273418 100.0 T G PASS 0/1 34 None None None 0.11082 0.11080 0.06459 None None None None None None MTOR|0.997612705|0.59%

MTOR
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 6424_s25 1 rs1064261
dbSNP Clinvar 		11288758 100.0 G A PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.70048 0.70050 0.38244 None None None None None None MTOR|0.997612705|0.59%
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 6424_s25 1 rs7524202
dbSNP Clinvar 		11297762 100.0 T C PASS 1/1 46 None None None 0.70088 0.70090 None None None None None None MTOR|0.997612705|0.59%
View 6424_s25 1 rs12132215
dbSNP Clinvar 		11298739 100.0 T C PASS 0/1 147 None None None 0.08706 0.08706 None None None None None None MTOR|0.997612705|0.59%

MTOR
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 6424_s25 1 rs1135172
dbSNP Clinvar 		11301714 100.0 A G PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.63958 0.63960 0.41466 None None None None None None MTOR|0.997612705|0.59%
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 6424_s25 1 rs12141961
dbSNP Clinvar 		11303153 100.0 C A PASS 0/1 62 None None None 0.09704 0.09704 0.05121 None None None None None None MTOR|0.997612705|0.59%
View 6424_s25 3 rs3729931
dbSNP Clinvar 		12626516 100.0 G A PASS 0/1 23 None None None 0.36462 0.36460 0.44241 None None None None None None RAF1|0.540744918|14.17%
View 6424_s25 3 rs3729926
dbSNP Clinvar 		12660291 100.0 C T PASS 1/1 96 None None None 0.91254 0.91250 None None None None None None RAF1|0.540744918|14.17%
View 6424_s25 16 rs212097
dbSNP Clinvar 		16244129 100.0 T C PASS 1/1 67 None None None 0.28175 0.28170 0.35206 None None None None None None ABCC6|0.022547171|72.9%

ABCC6
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 6424_s25 16 rs2238472
dbSNP Clinvar 		16251599 100.0 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.18131 0.18130 0.22395 0.18 0.01 None None None None None None ABCC6|0.022547171|72.9%
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 6424_s25 16 rs56822940,rs398078529,rs398028845
dbSNP Clinvar 		16253283 100.0 GC G PASS 1/1 25 None None None None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs3213473
dbSNP Clinvar 		16256767 100.0 T G PASS 1/1 73 None None None 0.00499 0.00499 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs11866320
dbSNP Clinvar 		16267079 100.0 A G PASS 1/1 51 None None None 0.97564 0.97560 None None None None None None ABCC6|0.022547171|72.9%

ABCC6
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 6424_s25 16 rs6416668
dbSNP Clinvar 		16271357 100.0 T C PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.96426 0.96430 0.03556 0.29 0.00 None None None None None None ABCC6|0.022547171|72.9%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 16 rs2283508
dbSNP Clinvar 		16272508 100.0 G A PASS 0/1 41 None None None 0.35383 0.35380 None None None None None None ABCC6|0.022547171|72.9%

ABCC6
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 6424_s25 16 rs7500834
dbSNP Clinvar 		16272670 100.0 T C PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.96446 0.96450 0.03548 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs8058694
dbSNP Clinvar 		16278863 100.0 G T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.33267 0.33270 0.45306 0.59 0.00 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs8058696
dbSNP Clinvar 		16278869 100.0 G C PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.33267 0.33270 0.45306 None None None None None None ABCC6|0.022547171|72.9%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 16 rs55685226,rs753239394
dbSNP Clinvar 		16278975 100.0 GC G PASS 1/1 60 None None None 0.00080 0.44770 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs8056103
dbSNP Clinvar 		16280921 100.0 T C PASS 1/1 33 None None None 0.00240 0.00240 None None None None None None ABCC6|0.022547171|72.9%

ABCC6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 16 rs12931472
dbSNP Clinvar 		16281007 100.0 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.33946 0.33950 0.46398 0.77 0.00 None None None None None None ABCC6|0.022547171|72.9%
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 6424_s25 16 rs7193932
dbSNP Clinvar 		16284272 100.0 C T PASS 1/1 107 None None None 0.94748 0.94750 0.05649 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs7206048
dbSNP Clinvar 		16286519 100.0 G C PASS 0/1 71 None None None 0.28814 0.28810 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs76470239
dbSNP Clinvar 		16286586 100.0 C T PASS 0/1 71 None None None 0.23223 0.23220 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs6498618
dbSNP Clinvar 		16286614 100.0 G C PASS 0/1 71 None None None 0.69768 0.69770 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs12929920
dbSNP Clinvar 		16291858 100.0 G C PASS 1/1 43 None None None 0.73143 0.73140 0.32628 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs9940089
dbSNP Clinvar 		16291871 100.0 G C PASS 1/1 43 None None None 0.78794 0.78790 0.26189 None None None None None None ABCC6|0.022547171|72.9%

ABCC6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 16 rs9940825
dbSNP Clinvar 		16291971 100.0 C T PASS 0/1 101 SYNONYMOUS_CODING LOW None 0.23223 0.23220 0.30603 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs9930886
dbSNP Clinvar 		16291983 100.0 A G PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.28275 0.28270 0.31330 None None None None None None ABCC6|0.022547171|72.9%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 16 rs12935089
dbSNP Clinvar 		16292128 100.0 C T PASS 1/1 59 None None None 0.31789 0.31790 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 16 rs12935658
dbSNP Clinvar 		16292133 100.0 A G PASS 1/1 59 None None None 0.31789 0.31790 None None None None None None ABCC6|0.022547171|72.9%
View 6424_s25 20 rs2281543
dbSNP Clinvar 		18005600 100.0 A C PASS 1/1 73 None None None 0.68930 0.68930 0.37244 None None None None None None OVOL2|0.091587792|52.91%
View 6424_s25 20 rs6136266
dbSNP Clinvar 		18022077 100.0 A G PASS 0/1 75 None None None 0.30112 0.30110 None None None None None None OVOL2|0.091587792|52.91%
View 6424_s25 20 rs1571431
dbSNP Clinvar 		18022171 100.0 C T PASS 0/1 75 None None None 0.55831 0.55830 0.39912 None None None None None None OVOL2|0.091587792|52.91%
View 6424_s25 20 rs6111804
dbSNP Clinvar 		18022399 100.0 G A PASS 0/1 77 None None None 0.16314 0.16310 0.14970 None None None None None None OVOL2|0.091587792|52.91%
View 6424_s25 7 rs17143187
dbSNP Clinvar 		20666235 100.0 G C PASS 0/1 73 None None None 0.14617 0.14620 0.00864 None None None None None None ABCB5|0.12579132|46.5%

ABCB5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 7 rs2074000
dbSNP Clinvar 		20685484 100.0 C A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.14317 0.14320 0.00641 0.00 0.85 None None None None None None ABCB5|0.12579132|46.5%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 7 rs11983326
dbSNP Clinvar 		20685508 100.0 T G PASS 0/1 100 None None None 0.32228 0.32230 0.35155 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 rs3213622
dbSNP Clinvar 		20690885 100.0 T C PASS 0/1 102 None None None 0.34046 0.34050 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 rs3213623
dbSNP Clinvar 		20691013 100.0 C T PASS 0/1 103 None None None 0.28934 0.28930 0.26580 None None None None None None ABCB5|0.12579132|46.5%

ABCB5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 7 rs2301641
dbSNP Clinvar 		20698270 100.0 A G PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.36382 0.36380 0.39997 1.00 0.00 None None None None None None ABCB5|0.12579132|46.5%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 7 rs12700227
dbSNP Clinvar 		20698602 100.0 T C PASS 0/1 72 None None None 0.12320 0.12320 0.11191 None None None None None None ABCB5|0.12579132|46.5%

ABCB5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 7 rs200795180
dbSNP Clinvar 		20698693 100.0 C T PASS 0/1 73 None None None 0.00140 0.00140 0.00010 0.03 0.00 None None None None None None ABCB5|0.12579132|46.5%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 7 rs11764760
dbSNP Clinvar 		20721084 100.0 T C PASS 0/1 137 None None None 0.18830 0.18830 0.18684 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 . 20739336 100.0 GA G R5x9 0/1 62 None None None None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 rs5882753
dbSNP Clinvar 		20739774 100.0 AT A PASS 1/1 127 None None None 0.86362 0.86360 None None None None None None ABCB5|0.12579132|46.5%

ABCB5
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 6424_s25 7 rs10254317
dbSNP Clinvar 		20768013 100.0 G A PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.59605 0.59600 0.47801 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 rs6461515
dbSNP Clinvar 		20778646 100.0 G A PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.75679 0.75680 0.22620 0.13 0.81 None None None None None None ABCB5|0.12579132|46.5%
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 6424_s25 7 rs6461516
dbSNP Clinvar 		20778773 100.0 C G PASS 1/1 79 None None None 0.80052 0.80050 0.18053 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 rs12669400
dbSNP Clinvar 		20782319 100.0 T C PASS 1/1 43 None None None 0.79433 0.79430 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 rs12669866
dbSNP Clinvar 		20782474 100.0 T C PASS 1/1 43 None None None 0.54333 0.54330 0.49300 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 7 rs10280418
dbSNP Clinvar 		20784677 100.0 C T PASS 1/1 44 None None None 0.82987 0.82990 None None None None None None ABCB5|0.12579132|46.5%
View 6424_s25 20 rs11431377,rs11427085
dbSNP Clinvar 		25057191 100.0 T TA PASS 0/1 69 None None None 0.23083 0.23080 None None None None None None VSX1|0.019829989|74.27%

VSX1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 20 rs56157240
dbSNP Clinvar 		25059381 100.0 A T PASS 0/1 45 None None None 0.29054 0.29050 0.30157 None None None None None None VSX1|0.019829989|74.27%
View 6424_s25 20 rs12480307
dbSNP Clinvar 		25059546 100.0 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.29034 0.29030 0.29948 None None None None None None VSX1|0.019829989|74.27%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 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%
View 6424_s25 10 rs220060
dbSNP Clinvar 		31803516 100.0 G A PASS 1/1 58 None None None 0.92133 0.92130 0.08459 None None None None None None ZEB1|0.848008697|4.69%
View 6424_s25 11 rs780753075
dbSNP Clinvar 		31811460 100.0 CT C R5x9 0/1 30 None None None None None None None None None PAX6|0.995427329|0.78%
View 6424_s25 11 rs3026393
dbSNP Clinvar 		31812215 100.0 A C PASS 0/1 36 None None None 0.00040 0.45430 0.44701 None None None None None None PAX6|0.995427329|0.78%
View 6424_s25 11 rs667773
dbSNP Clinvar 		31815362 100.0 G A PASS 0/1 50 None None None 0.09046 0.09046 0.04592 None None None None None None PAX6|0.995427329|0.78%
View 6424_s25 10 rs2153875
dbSNP Clinvar 		33190567 100.0 C A PASS 1/1 34 None None None 0.51118 0.51120 0.40558 None None None None None None ITGB1|0.816912657|5.38%
View 6424_s25 10 rs77744583,rs3035175
dbSNP Clinvar 		33197130 100.0 GCTTT G PASS 0/1 66 None None None 0.15176 0.15180 None None None None None None ITGB1|0.816912657|5.38%
View 6424_s25 10 rs4587680
dbSNP Clinvar 		33200782 100.0 C T PASS 0/1 69 None None None 0.10523 0.10520 0.07466 None None None None None None ITGB1|0.816912657|5.38%

ITGB1
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 6424_s25 10 rs2230396
dbSNP Clinvar 		33209266 100.0 G T PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.78455 0.78450 0.17446 None None None None None None ITGB1|0.816912657|5.38%
View 6424_s25 10 rs2298141
dbSNP Clinvar 		33214802 100.0 A G PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.15655 0.15650 0.13532 None None None None None None ITGB1|0.816912657|5.38%
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 10 rs2256455
dbSNP Clinvar 		33219008 100.0 T G PASS 0/1 60 None None None 0.48443 0.48440 0.47221 None None None None None None ITGB1|0.816912657|5.38%

TLN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6424_s25 9 rs11541908
dbSNP Clinvar 		35705759 100.0 G A PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.16913 0.16910 0.19683 None None None None None None TLN1|0.598640538|11.8%