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Genes at Omim

ABCC6, ADAMTS18, AGBL1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A3, COL4A4, COL6A1, CYP4V2, FOXE3, KRT13, LOX, MYLK, PIK3R1, PIKFYVE, SIX5, SLC4A11, TCF4, ZEB1, ZNF469,
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)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease with or without ocular anomalies, 175780 (3)
?Retinal arteries, tortuosity of, 180000 (3)
Schizencephaly, 269160 (3)
COL4A3 Alport syndrome 2, autosomal recessive, 203780 (3)
Alport syndrome 3, autosomal dominant, 104200 (3)
Hematuria, benign familial, 141200 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (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)
KRT13 White sponge nevus 2, 615785 (3)
LOX Aortic aneurysm, familial thoracic 10, 617168 (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)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
ZEB1 Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
Corneal dystrophy, posterior polymorphous, 3, 609141 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCC6, ADAMTS18, AGBL1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A3, COL4A4, COL6A1, CYP4V2, FOXE3, KRT13, MYLK, PIK3R1, PIKFYVE, SIX5, SLC4A11, TCF4, ZEB1, ZNF469,
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
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Brain small vessel disease with or without ocular anomalies
Anterior segment dysgenesis with cerebral involvement
Porencephaly 1
Retinal artery tortuosity
Schizencephaly
COL4A3 Alport syndrome, autosomal dominant
Alport syndrome, autosomal recessive
COL4A4 Alport syndrome, autosomal recessive
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
FOXE3 Aphakia, congenital primary
Anterior segment mesenchymal dysgenesis
KRT13 White sponge nevus 2
MYLK Aortic aneurysm, familial thoracic 7
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PIKFYVE Corneal fleck dystrophy
SIX5 Branchiootorenal syndrome 2
SLC4A11 Cryohydrocytosis
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
ZEB1 Corneal dystrophy, Fuchs endothelial 6
Corneal dystrophy, posterior polymorphous, 3
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 78
Number of Genes: 32

Export to: CSV
  • Page 1 of 1

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 17507_s32 7 rs2074000
dbSNP Clinvar
20685484 100.0 C A PASS 1/1 73 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%
View 17507_s32 7 rs6461515
dbSNP Clinvar
20778646 100.0 G A PASS 1/1 30 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%

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 17507_s32 16 rs6416668
dbSNP Clinvar
16271357 100.0 T C PASS 1/1 46 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%

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 17507_s32 16 rs11640912
dbSNP Clinvar
77359919 100.0 A T PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.43950 0.43950 0.31887 0.00 0.01 None None None None None None ADAMTS18|0.112557021|48.75%
View 17507_s32 16 rs11643211
dbSNP Clinvar
77401545 84.0 A G PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.36681 0.36680 0.25262 0.41 0.35 None None None None None None ADAMTS18|0.112557021|48.75%
View 17507_s32 16 rs3743749
dbSNP Clinvar
77323235 100.0 C G PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.18191 0.18190 0.16467 0.01 0.12 None None None None None None ADAMTS18|0.112557021|48.75%
View 17507_s32 16 rs9930984
dbSNP Clinvar
77353973 100.0 G T PASS 1/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.63498 0.63500 0.48561 0.12 0.00 None None None None None None ADAMTS18|0.112557021|48.75%

AGBL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 15 rs8028043
dbSNP Clinvar
87217613 100.0 A G PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.89217 0.89220 0.11030 1.00 0.00 None None None None None None AGBL1|0.082073978|54.74%

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 17507_s32 6 rs970547
dbSNP Clinvar
75797302 100.0 C T PASS 1/1 33 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%

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 17507_s32 10 rs805722
dbSNP Clinvar
105810400 100.0 T C PASS 1/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.69369 0.69370 0.28095 0.64 0.00 None None None None None None COL17A1|0.220252717|34.39%
View 17507_s32 10 rs805708
dbSNP Clinvar
105824333 100.0 G A PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.56490 0.56490 0.41489 0.00 0.89 None None None None None None COL17A1|0.220252717|34.39%
View 17507_s32 10 rs805698
dbSNP Clinvar
105816916 100.0 C T PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.81849 0.81850 0.15113 0.46 0.00 None None None None None None COL17A1|0.220252717|34.39%

COL2A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 12 rs3803183
dbSNP Clinvar
48398080 71.0 T A PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.68530 0.68530 0.21085 0.18 0.00 None None None None None None COL2A1|0.956600158|2.04%
View 17507_s32 12 rs2070739
dbSNP Clinvar
48367976 100.0 C T PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.17093 0.17090 0.06981 0.05 1.00 None None None None None None COL2A1|0.956600158|2.04%

COL4A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 13 rs536174
dbSNP Clinvar
110839550 100.0 T G PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
View 17507_s32 13 rs9515185
dbSNP Clinvar
110959356 100.0 C G PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.42412 0.42410 0.00 None None None None None None COL4A1|0.224151486|33.94%,COL4A2|0.044971251|64.22%

COL4A3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 2 rs6436669
dbSNP Clinvar
228113175 100.0 A G PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.79633 0.79630 0.22987 1.00 0.01 None None None None None None COL4A3|0.119573089|47.51%
View 17507_s32 2 rs10178458
dbSNP Clinvar
228111435 100.0 T C PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.79673 0.79670 0.22958 1.00 0.01 None None None None None None COL4A3|0.119573089|47.51%
View 17507_s32 2 rs28381984
dbSNP Clinvar
228135631 100.0 C T PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.39996 0.40000 0.38901 0.01 1.00 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 17507_s32 2 rs2229814
dbSNP Clinvar
227954599 100.0 G A PASS 1/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.54852 0.54850 0.49096 0.87 0.00 None None None None None None COL4A4|0.099677436|51.24%
View 17507_s32 2 rs2229813
dbSNP Clinvar
227892720 100.0 C T PASS 0/1 50 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 17507_s32 2 rs3752895
dbSNP Clinvar
227886773 100.0 A G PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.52616 0.52620 0.47825 0.95 0.00 None None None None None None COL4A4|0.099677436|51.24%
View 17507_s32 2 rs1800517
dbSNP Clinvar
227915832 100.0 G A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.54732 0.54730 0.48141 0.01 0.20 None None None None None None COL4A4|0.099677436|51.24%

COL6A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 21 . 47423839 100.0 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.38 None None None None None None COL6A1|0.085741402|53.99%
View 17507_s32 21 rs13051496
dbSNP Clinvar
47423509 100.0 C T PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.10883 0.10880 0.16187 0.06 0.04 None None None None None None COL6A1|0.085741402|53.99%

CYP4V2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 4 rs1055138
dbSNP Clinvar
187113041 100.0 C G PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.40974 0.40970 0.46360 0.83 0.00 None None None None None None CYP4V2|0.027940176|70.46%
View 17507_s32 4 rs13146272
dbSNP Clinvar
187120211 100.0 C A PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.55931 0.55930 0.37175 1.00 0.00 None None None None None None CYP4V2|0.027940176|70.46%

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 17507_s32 1 rs534479543
dbSNP Clinvar
47882145 100.0 C T PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.00659 0.00659 0.34 0.01 None None None None None None FOXE3|0.032576489|68.36%

GPR98

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 5 rs4916685
dbSNP Clinvar
89979698 100.0 C T PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.33726 0.33730 0.30536 0.08 1.00 None None None None None None ADGRV1|0.328571635|25.58%
View 17507_s32 5 rs4916684
dbSNP Clinvar
89979589 100.0 G A PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.80371 0.80370 0.27248 0.89 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 17507_s32 5 rs2366777
dbSNP Clinvar
89943571 100.0 G T PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.81030 0.81030 0.27251 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 17507_s32 5 rs2366928
dbSNP Clinvar
90024735 100.0 G A PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.82907 0.82910 0.24704 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 17507_s32 5 rs10062026
dbSNP Clinvar
90052289 100.0 G A PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.29613 0.29610 0.25290 0.13 0.16 None None None None None None ADGRV1|0.328571635|25.58%
View 17507_s32 5 rs2438374
dbSNP Clinvar
90107108 100.0 A G PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.94609 0.94610 0.06388 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 17507_s32 5 rs2438378
dbSNP Clinvar
90119324 100.0 G A PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.97224 0.97220 0.02790 0.25 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 17507_s32 5 rs1878878
dbSNP Clinvar
89990324 100.0 A G PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.80851 0.80850 0.26875 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 17507_s32 5 rs2247870
dbSNP Clinvar
90151589 100.0 G A PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.45907 0.45910 0.43475 0.08 0.18 None None None None None None ADGRV1|0.328571635|25.58%
View 17507_s32 5 rs2366926
dbSNP Clinvar
89988504 100.0 A G PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.32228 0.32230 0.29139 0.05 1.00 None None None None None None ADGRV1|0.328571635|25.58%
View 17507_s32 5 rs10037067
dbSNP Clinvar
89985882 100.0 A G PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.34984 0.34980 0.31810 0.01 0.89 None None None None None None ADGRV1|0.328571635|25.58%

KRT13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 17 rs9891361
dbSNP Clinvar
39659913 100.0 G A PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.70527 0.70530 0.30486 0.04 0.78 None None None None None None KRT13|0.071438602|57.11%
View 17507_s32 17 rs4796697
dbSNP Clinvar
39659194 100.0 T C PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.90395 0.90400 0.08496 0.04 0.03 None None None None None None KRT13|0.071438602|57.11%

KRT15

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 17 rs897420
dbSNP Clinvar
39670912 100.0 G C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.97284 0.97280 0.02791 0.62 0.00 None None None None None None KRT15|0.103828379|50.45%
View 17507_s32 17 rs1050784
dbSNP Clinvar
39674641 100.0 T C PASS 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.73283 0.73280 0.37967 0.58 0.01 None None None None None None KRT15|0.103828379|50.45%

KRT23

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 17 rs9257
dbSNP Clinvar
39084504 100.0 T C PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.58327 0.58330 0.45002 1.00 0.00 None None None None None None KRT23|0.054190188|61.41%
View 17507_s32 17 rs34861030
dbSNP Clinvar
39092735 100.0 C A PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.03395 0.03395 0.01007 0.48 0.00 None None None None None None KRT23|0.054190188|61.41%

KRT24

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 17 rs2462961
dbSNP Clinvar
38855772 100.0 T C PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.48693 1.00 0.00 None None None None None None KRT24|0.036955337|66.8%
View 17507_s32 17 rs874889
dbSNP Clinvar
38857446 100.0 C A PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.47684 0.47680 0.38090 0.57 0.00 None None None None None None KRT24|0.036955337|66.8%

LOX

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 17507_s32 5 rs1800449
dbSNP Clinvar
121413208 100.0 C T PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.15675 0.15670 0.17534 0.44 0.00 None None None None None None LOX|0.986128219|1.23%

MAP3K19

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 17507_s32 2 rs3905317
dbSNP Clinvar
135744007 100.0 T C PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.09225 0.09225 0.00830 0.00 0.05 None None None None None None MAP3K19|0.070109416|57.46%
View 17507_s32 2 rs1112542
dbSNP Clinvar
135744416 100.0 C G PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.12520 0.12520 0.05036 0.02 0.21 None None None None None None MAP3K19|0.070109416|57.46%

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 17507_s32 3 rs3732487
dbSNP Clinvar
123419573 100.0 G T PASS 0/1 88 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%
View 17507_s32 3 rs28497577
dbSNP Clinvar
123512627 100.0 G T PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.19728 0.19730 0.18492 0.34 0.01 None None None None None None MYLK|0.503223171|15.7%
View 17507_s32 3 rs9840993
dbSNP Clinvar
123457893 100.0 G A PASS 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.85623 0.85620 0.12756 0.09 0.05 None None None None None None MYLK|0.503223171|15.7%
View 17507_s32 3 rs9833275
dbSNP Clinvar
123451773 100.0 G C PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.99900 0.99900 0.00138 1.00 0.00 None None None None None None MYLK|0.503223171|15.7%
View 17507_s32 3 rs3732486
dbSNP Clinvar
123419733 100.0 A G PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.27895 0.27900 0.09988 0.81 0.00 None None None None None None MYLK|0.503223171|15.7%

PIK3R1

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 17507_s32 5 rs3730089
dbSNP Clinvar
67588148 100.0 G A PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.22045 0.22040 0.23828 0.41 0.00 None None None None None None PIK3R1|0.917149804|3.05%

PIKFYVE

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 17507_s32 2 rs1529979
dbSNP Clinvar
209191082 100.0 C A PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.91154 0.91150 0.07766 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 17507_s32 2 rs10932258
dbSNP Clinvar
209184980 100.0 G A PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.99181 0.99180 0.00785 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 17507_s32 2 rs2363468
dbSNP Clinvar
209190330 100.0 T C PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.91174 0.91170 0.07758 0.88 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 17507_s32 2 rs893254
dbSNP Clinvar
209190519 100.0 A T PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.91154 0.91150 0.07766 0.22 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 17507_s32 2 rs893253
dbSNP Clinvar
209190528 100.0 C G PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.91214 0.91210 0.07689 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%

PXN

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 17507_s32 12 rs4767884
dbSNP Clinvar
120661977 100.0 T C PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.90076 0.90080 0.16978 0.56 0.00 None None None None None None PXN|0.716901595|8.07%

SFTPD

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 10 rs2243639
dbSNP Clinvar
81701722 100.0 T C PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.77037 0.77040 0.28395 1.00 0.00 None None None None None None SFTPD|0.023000884|72.72%
View 17507_s32 10 rs721917
dbSNP Clinvar
81706324 100.0 A G PASS 0/1 102 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%

SIX5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 19 rs2341097
dbSNP Clinvar
46268902 100.0 C T PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.29812 0.29810 0.34366 0.01 0.17 None None None None None None SIX5|0.127519574|46.26%
View 17507_s32 19 rs2014377
dbSNP Clinvar
46269313 100.0 G C PASS 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.90395 0.90400 0.12762 1.00 0.00 None None None None None None SIX5|0.127519574|46.26%

SLC4A11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 20 rs3810562
dbSNP Clinvar
3218634 100.0 G C PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.64157 0.64160 0.67 0.00 None None None None None None SLC4A11|0.04004945|65.76%

TCF4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 18 rs611326
dbSNP Clinvar
53303101 100.0 C G PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00123 0.52 0.00 None None None None None None TCF4|0.999272266|0.38%

TLN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 9 . 35705612 100.0 G C PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.47 0.10 None None None None None None TLN1|0.598640538|11.8%

WNT9B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 17 rs4968281
dbSNP Clinvar
44950122 100.0 T C PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.70707 0.70710 0.20855 0.46 0.00 None None None None None None WNT9B|0.216421213|34.84%

ZEB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 10 . 31810437 100.0 G C PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.32 0.11 None None None None None None ZEB1|0.848008697|4.69%

ZNF469

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 16 rs7197071
dbSNP Clinvar
88497446 100.0 A G PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.81889 0.81890 0.18601 0.01 None None None None None None ZNF469|0.000923153|95.92%
View 17507_s32 16 rs113937803
dbSNP Clinvar
88495163 100.0 G A PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.04712 0.04712 0.01 None None None None None None ZNF469|0.000923153|95.92%
View 17507_s32 16 rs1983014
dbSNP Clinvar
88502505 100.0 A G PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.99621 0.99620 0.00483 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 17507_s32 16 rs4782300
dbSNP Clinvar
88498221 100.0 C T PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.84425 0.84420 0.12275 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 17507_s32 16 rs904783
dbSNP Clinvar
88504868 100.0 A G PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00022 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 17507_s32 16 rs7199961
dbSNP Clinvar
88495407 100.0 G C PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.99161 0.99160 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 17507_s32 16 rs3812955
dbSNP Clinvar
88502090 100.0 G A PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.03654 0.03654 0.02584 0.00 None None None None None None ZNF469|0.000923153|95.92%
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