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+ Genes 31

+ Genes associated with diseases 22

Genes at Omim

ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A3, COL4A4, COL6A1, CYP4V2, KRT12, KRT13, KRT3, MTOR, MYLK, NLRP1, PIKFYVE, SIX5, TCF4, 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)
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)
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)
KRT12 Meesmann corneal dystrophy, 122100 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT3 Meesmann corneal dystrophy, 122100 (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)
PIKFYVE Corneal fleck dystrophy, 121850 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A3, COL4A4, COL6A1, CYP4V2, KRT12, KRT13, KRT3, MTOR, MYLK, NLRP1, PIKFYVE, SIX5, TCF4, 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
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
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
KRT12 Meesmann corneal dystrophy
KRT13 White sponge nevus 2
KRT3 Meesmann corneal dystrophy
MTOR Smith-Kingsmore syndrome
MYLK Aortic aneurysm, familial thoracic 7
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
PIKFYVE Corneal fleck dystrophy
SIX5 Branchiootorenal syndrome 2
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 76
Number of Genes: 31

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 6343_s27 7 rs34603556
dbSNP Clinvar 		20691047 100.0 T C PASS 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.10164 0.10160 0.15485 1.00 0.00 None None None None None None ABCB5|0.12579132|46.5%
View 6343_s27 7 rs6461515
dbSNP Clinvar 		20778646 100.0 G A PASS 1/1 37 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%
View 6343_s27 7 rs62453384
dbSNP Clinvar 		20762646 100.0 G T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.23223 0.23220 0.29909 0.00 0.57 None None None None None None ABCB5|0.12579132|46.5%
View 6343_s27 7 rs2301641
dbSNP Clinvar 		20698270 100.0 A G PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.36382 0.36380 0.39997 1.00 0.00 None None None None None None ABCB5|0.12579132|46.5%

ABCC6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6343_s27 16 rs2238472
dbSNP Clinvar 		16251599 100.0 C T PASS 0/1 23 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%
View 6343_s27 16 rs6416668
dbSNP Clinvar 		16271357 100.0 T C PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.96426 0.96430 0.03556 0.29 0.00 None None None None None None ABCC6|0.022547171|72.9%
View 6343_s27 16 rs41278174
dbSNP Clinvar 		16259596 100.0 G A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.01158 0.01158 0.01747 0.00 0.94 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 6343_s27 16 rs35478105
dbSNP Clinvar 		77325325 100.0 G T PASS 1/1 81 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%

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 6343_s27 15 rs8028043
dbSNP Clinvar 		87217613 100.0 A G PASS 1/1 25 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%

BEST1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6343_s27 11 rs17185413
dbSNP Clinvar 		61730553 100.0 T C PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.10443 0.10440 0.19076 0.00 0.00 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%

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 6343_s27 6 rs970547
dbSNP Clinvar 		75797302 100.0 C T PASS 1/1 24 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 6343_s27 10 rs805708
dbSNP Clinvar 		105824333 100.0 G A PASS 1/1 30 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 6343_s27 10 rs805698
dbSNP Clinvar 		105816916 100.0 C T PASS 1/1 15 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%
View 6343_s27 10 rs805722
dbSNP Clinvar 		105810400 100.0 T C PASS 1/1 27 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%

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 6343_s27 12 rs3803183
dbSNP Clinvar 		48398080 100.0 T A PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.68530 0.68530 0.21085 0.18 0.00 None None None None None None COL2A1|0.956600158|2.04%

COL4A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6343_s27 13 rs9515185
dbSNP Clinvar 		110959356 87.0 C G PASS 0/1 20 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%
View 6343_s27 13 rs536174
dbSNP Clinvar 		110839550 100.0 T G PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%

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 6343_s27 2 rs6436669
dbSNP Clinvar 		228113175 100.0 A G PASS 0/1 103 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 6343_s27 2 rs10178458
dbSNP Clinvar 		228111435 100.0 T C PASS 0/1 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 6343_s27 2 rs28381984
dbSNP Clinvar 		228135631 100.0 C T PASS 1/1 106 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 6343_s27 2 rs3752895
dbSNP Clinvar 		227886773 100.0 A G PASS 0/1 44 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 6343_s27 2 rs2229813
dbSNP Clinvar 		227892720 100.0 C T PASS 0/1 73 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 6343_s27 2 rs1800517
dbSNP Clinvar 		227915832 100.0 G A PASS 0/1 49 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%
View 6343_s27 2 rs2229814
dbSNP Clinvar 		227954599 100.0 G A PASS 0/1 50 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 6343_s27 2 rs190148408
dbSNP Clinvar 		227872783 100.0 G C PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00247 0.85 0.65 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 6343_s27 21 rs150686304
dbSNP Clinvar 		47404304 100.0 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00039 0.00 1.00 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 6343_s27 4 rs13146272
dbSNP Clinvar 		187120211 100.0 C A PASS 0/1 51 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%

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 6343_s27 5 rs2438374
dbSNP Clinvar 		90107108 100.0 A G PASS 1/1 78 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 6343_s27 5 rs2247870
dbSNP Clinvar 		90151589 100.0 G A PASS 1/1 66 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 6343_s27 5 rs2438378
dbSNP Clinvar 		90119324 100.0 G A PASS 1/1 36 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 6343_s27 5 rs2366777
dbSNP Clinvar 		89943571 100.0 G T PASS 1/1 35 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 6343_s27 5 rs4916684
dbSNP Clinvar 		89979589 100.0 G A PASS 1/1 45 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 6343_s27 5 rs4916685
dbSNP Clinvar 		89979698 100.0 C T PASS 1/1 14 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 6343_s27 5 rs10037067
dbSNP Clinvar 		89985882 100.0 A G PASS 1/1 52 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%
View 6343_s27 5 rs2366926
dbSNP Clinvar 		89988504 100.0 A G PASS 1/1 21 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 6343_s27 5 rs1878878
dbSNP Clinvar 		89990324 100.0 A G PASS 1/1 43 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 6343_s27 5 rs2366928
dbSNP Clinvar 		90024735 100.0 G A PASS 1/1 25 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 6343_s27 5 rs10062026
dbSNP Clinvar 		90052289 100.0 G A PASS 1/1 72 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%

KRT12
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 6343_s27 17 rs11650915
dbSNP Clinvar 		39023396 100.0 G A PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.30951 0.30950 0.27126 1.00 0.00 None None None None None None KRT12|0.089362402|53.37%

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 6343_s27 17 rs4796697
dbSNP Clinvar 		39659194 100.0 T C PASS 1/1 67 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%
View 6343_s27 17 rs9891361
dbSNP Clinvar 		39659913 100.0 G A PASS 1/1 47 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 6343_s27 17 rs535020030
dbSNP Clinvar 		39659217 100.0 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.00399 0.00399 0.03 0.31 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 6343_s27 17 rs1050784
dbSNP Clinvar 		39674641 100.0 T C PASS 1/1 27 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%
View 6343_s27 17 rs897420
dbSNP Clinvar 		39670912 100.0 G C PASS 1/1 40 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%

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 6343_s27 17 rs34861030
dbSNP Clinvar 		39092735 100.0 C A PASS 1/1 49 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 6343_s27 17 rs874889
dbSNP Clinvar 		38857446 100.0 C A PASS 1/1 112 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%
View 6343_s27 17 rs2462961
dbSNP Clinvar 		38855772 100.0 T C PASS 1/1 70 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%

KRT3
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 6343_s27 12 rs3887954
dbSNP Clinvar 		53186088 100.0 G C PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.37780 0.37780 0.41518 0.00 0.94 None None None None None None KRT3|0.041114774|65.41%

MTOR
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 6343_s27 1 . 11294267 100.0 C T PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None MTOR|0.997612705|0.59%

MYLK
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 6343_s27 3 rs9840993
dbSNP Clinvar 		123457893 100.0 G A PASS 1/1 64 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 6343_s27 3 rs9833275
dbSNP Clinvar 		123451773 100.0 G C PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.99900 0.99900 0.00138 1.00 0.00 None None None None None None MYLK|0.503223171|15.7%

NLRP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6343_s27 17 . 5418307 90.0 C G PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.79 None None None None None None NLRP1|0.001451196|93.02%
View 6343_s27 17 rs11651270
dbSNP Clinvar 		5425077 100.0 T C PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.41793 0.41790 0.48262 1.00 0.00 None None None None None None NLRP1|0.001451196|93.02%
View 6343_s27 17 rs12150220
dbSNP Clinvar 		5485367 100.0 A T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.19209 0.19210 0.33223 0.05 0.67 None None None None None None NLRP1|0.001451196|93.02%
View 6343_s27 17 rs2301582
dbSNP Clinvar 		5436263 100.0 C T PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.18431 0.18430 0.30663 0.13 0.02 None None None None None None NLRP1|0.001451196|93.02%

PIKFYVE
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6343_s27 2 rs1529979
dbSNP Clinvar 		209191082 100.0 C A PASS 1/1 45 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 6343_s27 2 rs893253
dbSNP Clinvar 		209190528 100.0 C G PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.91214 0.91210 0.07689 1.00 0.00 None None None None None None PIKFYVE|0.407766308|20.32%
View 6343_s27 2 rs893254
dbSNP Clinvar 		209190519 100.0 A T PASS 1/1 35 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 6343_s27 2 rs2363468
dbSNP Clinvar 		209190330 100.0 T C PASS 1/1 52 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 6343_s27 2 rs10932258
dbSNP Clinvar 		209184980 100.0 G A PASS 1/1 28 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%

PTK2
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 6343_s27 8 . 141856408 100.0 C T PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.01 1.00 None None None None None None PTK2|0.369628478|22.73%

PXN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6343_s27 12 rs4767884
dbSNP Clinvar 		120661977 100.0 T C PASS 0/1 67 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 6343_s27 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 6343_s27 10 rs3088308
dbSNP Clinvar 		81697868 100.0 A T PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.08247 0.08247 0.05582 0.12 0.01 None None None None None None SFTPD|0.023000884|72.72%
View 6343_s27 10 rs721917
dbSNP Clinvar 		81706324 100.0 A G PASS 0/1 96 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 6343_s27 19 rs2014576
dbSNP Clinvar 		46269076 100.0 G A PASS 1/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.50100 0.50100 0.40317 0.61 0.00 None None None None None None SIX5|0.127519574|46.26%
View 6343_s27 19 rs2014377
dbSNP Clinvar 		46269313 100.0 G C PASS 1/1 69 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%

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 6343_s27 18 rs611326
dbSNP Clinvar 		53303101 100.0 C G PASS 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00123 0.52 0.00 None None None None None None TCF4|0.999272266|0.38%

WNT9B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 6343_s27 17 rs4968281
dbSNP Clinvar 		44950122 100.0 T C PASS 1/1 61 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%

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 6343_s27 16 rs7199961
dbSNP Clinvar 		88495407 100.0 G C PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.99161 0.99160 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 6343_s27 16 rs7197071
dbSNP Clinvar 		88497446 100.0 A G PASS 1/1 55 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 6343_s27 16 rs4782300
dbSNP Clinvar 		88498221 100.0 C T PASS 1/1 40 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 6343_s27 16 rs3812956
dbSNP Clinvar 		88501971 100.0 T A PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.29433 0.29430 0.33830 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 6343_s27 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 6343_s27 16 rs1105066
dbSNP Clinvar 		88504850 100.0 G C PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.39097 0.39100 0.45093 0.12 None None None None None None ZNF469|0.000923153|95.92%
View 6343_s27 16 rs904783
dbSNP Clinvar 		88504868 100.0 A G PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.99920 0.99920 0.00022 0.00 None None None None None None ZNF469|0.000923153|95.92%
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