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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
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FREQUENCIES

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
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MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A2, KERA, KRT13, KRT16, KRT3, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, PXDN, SIX5, TCF4, 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)
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)
COL5A2 Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
KERA Cornea plana 2, autosomal recessive, 217300 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT16 Pachyonychia congenita 1, 167200 (3)
Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)
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)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (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

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A2, KERA, KRT13, KRT16, KRT3, MTOR, MYLK, NLRP1, PIK3R1, PIKFYVE, PXDN, SIX5, TCF4, 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
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
COL5A2 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
KERA Cornea plana 2, autosomal recessive
KRT13 White sponge nevus 2
KRT16 Palmoplantar keratoderma, nonepidermolytic, focal
Pachyonychia congenita 1
KRT3 Meesmann corneal dystrophy
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
PXDN Corneal opacification with other ocular anomalies
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: 264
Number of Genes: 33

Export to: CSV

ABCA4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 1 rs1762114
dbSNP Clinvar
94471075 100.0 A G PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 None None None None None None ABCA4|0.440503373|18.63%
View 17507_s32 1 rs4847281
dbSNP Clinvar
94578548 100.0 T C PASS 1/1 11 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%

ABCB5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 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 rs10254317
dbSNP Clinvar
20768013 100.0 G A PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.59605 0.59600 0.47801 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%
View 17507_s32 16 rs7500834
dbSNP Clinvar
16272670 100.0 T C PASS 1/1 96 SYNONYMOUS_CODING LOW None 0.96446 0.96450 0.03548 None None None None None None ABCC6|0.022547171|72.9%

ADAMTS18

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 16 rs8059275
dbSNP Clinvar
77389956 100.0 A G PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.88219 0.88220 0.12527 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%
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 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%

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%
View 17507_s32 15 rs1006030
dbSNP Clinvar
87531281 100.0 A C PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.19396 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 17507_s32 11 rs1800009
dbSNP Clinvar
61730234 100.0 T C PASS 1/1 35 SYNONYMOUS_CODING LOW None 0.59145 0.59150 0.39932 None None None None None None BEST1|0.0975286|51.61%,FTH1|0.995222163|0.79%
View 17507_s32 11 rs1800007
dbSNP Clinvar
61719387 100.0 T C PASS 1/1 41 None None None 0.68051 0.68050 0.44732 None None None None None None BEST1|0.0975286|51.61%

COL12A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 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%
View 17507_s32 6 rs594012
dbSNP Clinvar
75841722 100.0 A T PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.88618 0.88620 0.11774 None None None None None None COL12A1|0.494206072|16.13%

COL17A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 10 rs805701
dbSNP Clinvar
105819956 100.0 G A PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.55252 0.55250 0.44480 None None None None None None COL17A1|0.220252717|34.39%
View 17507_s32 10 rs2476958
dbSNP Clinvar
105796819 100.0 A G PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.98602 0.98600 0.01377 None None None None None None COL17A1|0.220252717|34.39%
View 17507_s32 10 rs2296219
dbSNP Clinvar
105799216 100.0 G T PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.68351 0.68350 0.28487 None None None None None None COL17A1|0.220252717|34.39%
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 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%
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%

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 rs16975492
dbSNP Clinvar
110833702 100.0 C T PASS 1/1 20 SYNONYMOUS_CODING LOW None 0.30711 0.30710 0.32162 None None None None None None COL4A1|0.224151486|33.94%
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 rs874203
dbSNP Clinvar
110827574 100.0 T A PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.31789 0.31790 0.33592 None None None None None None COL4A1|0.224151486|33.94%
View 17507_s32 13 rs874204
dbSNP Clinvar
110827580 100.0 C T PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.31809 0.31810 0.33592 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%

COL4A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 13 rs439831
dbSNP Clinvar
111154058 100.0 T A PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 None None None None None None COL4A2|0.044971251|64.22%
View 17507_s32 13 rs445348
dbSNP Clinvar
111158874 100.0 A G PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 17507_s32 13 rs438758
dbSNP Clinvar
111155773 100.0 T C PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 17507_s32 13 rs4238272
dbSNP Clinvar
111077197 100.0 G A PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%
View 17507_s32 13 rs4771683
dbSNP Clinvar
111156499 100.0 C T PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View 17507_s32 13 rs409858
dbSNP Clinvar
111154061 100.0 T C PASS 1/1 76 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%

COL4A3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 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 rs10205042
dbSNP Clinvar
228128540 100.0 C T PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.76757 0.76760 0.28196 None None None None None None COL4A3|0.119573089|47.51%

COL4A4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 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%

COL5A2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 2 rs4128539
dbSNP Clinvar
189974958 100.0 G T PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.88858 0.88860 0.06005 None None None None None None COL5A2|0.575233366|12.81%
View 17507_s32 2 rs2229495
dbSNP Clinvar
189932831 100.0 T C PASS 1/1 35 SYNONYMOUS_CODING LOW None 0.94289 0.94290 0.03737 None None None None None None COL5A2|0.575233366|12.81%
View 17507_s32 2 rs6434312
dbSNP Clinvar
189907937 100.0 A G PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.02868 None None None None None None COL5A2|0.575233366|12.81%

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 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 rs2438349
dbSNP Clinvar
90052372 100.0 C T PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.53934 0.53930 0.47965 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 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 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%

ITGB1

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 rs2230394
dbSNP Clinvar
33217110 100.0 G A PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.19988 0.19990 0.15677 None None None None None None ITGB1|0.816912657|5.38%
View 17507_s32 10 rs2230395
dbSNP Clinvar
33211227 100.0 T G PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.19090 0.19090 0.14701 None None None None None None ITGB1|0.816912657|5.38%

KERA

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 rs2735333
dbSNP Clinvar
91449990 100.0 C T PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.62001 0.62000 0.36689 None None None None None None KERA|0.287600325|28.54%

KRT13

Omim - GeneCards - NCBI
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%
View 17507_s32 17 rs8182306
dbSNP Clinvar
39661689 100.0 G A PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.85503 0.85500 0.13248 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 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%
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%

KRT16

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 17 rs4796681
dbSNP Clinvar
39767744 100.0 A G PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.77416 0.77420 0.37168 None None None None None None KRT16|0.063740015|58.95%

KRT3

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 rs4432093
dbSNP Clinvar
53186122 100.0 G A PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.78774 0.78770 0.18937 None None None None None None KRT3|0.041114774|65.41%

LRRN1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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 3 rs2120609
dbSNP Clinvar
3887876 100.0 T C PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.47844 0.47840 0.36891 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 17507_s32 3 rs4685689
dbSNP Clinvar
3886580 100.0 A G PASS 1/1 52 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%

MTOR

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 1 rs1057079
dbSNP Clinvar
11205058 100.0 C T PASS 1/1 23 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.45410 None None None None None None MTOR|0.997612705|0.59%

MYLK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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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 rs820463
dbSNP Clinvar
123357037 100.0 A G PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.37440 0.37440 0.19791 None None None None None None MYLK|0.503223171|15.7%
View 17507_s32 3 rs1254392
dbSNP Clinvar
123368013 100.0 A G PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.39617 0.39620 0.22459 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 rs4678047
dbSNP Clinvar
123452838 100.0 G A PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.63279 0.63280 0.42565 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%

NLRP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 17 rs884367
dbSNP Clinvar
5487164 100.0 C G PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.28315 0.28310 0.12991 None None None None None None NLRP1|0.001451196|93.02%

PIK3CG

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 17507_s32 7 rs849389
dbSNP Clinvar
106508978 100.0 A G PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.08258 None None None None None None PIK3CG|0.990082262|1.08%
View 17507_s32 7 rs849390
dbSNP Clinvar
106508987 100.0 T C PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.08127 None None None None None None PIK3CG|0.990082262|1.08%

PIK3R1

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 rs706713
dbSNP Clinvar
67522722 100.0 C T PASS 1/1 14 SYNONYMOUS_CODING LOW None 0.41933 0.41930 0.29333 None None None None None None PIK3R1|0.917149804|3.05%

PIKFYVE

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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 rs994697
dbSNP Clinvar
209215586 100.0 A G PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.91114 0.91110 0.07812 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 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 rs10932259
dbSNP Clinvar
209184999 100.0 C T PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.07787 None None None None None None PIKFYVE|0.407766308|20.32%
View 17507_s32 2 rs2304545
dbSNP Clinvar
209212707 100.0 G A PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.71605 0.71610 0.31693 None None None None None None PIKFYVE|0.407766308|20.32%
View 17507_s32 2 rs2118297
dbSNP Clinvar
209214770 100.0 A G PASS 1/1 14 SYNONYMOUS_CODING LOW None 0.91114 0.91110 0.07821 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 rs1529978
dbSNP Clinvar
209191099 100.0 T C PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.99601 0.99600 0.00538 None None None None None None PIKFYVE|0.407766308|20.32%
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 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%

PXDN

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 rs6730800
dbSNP Clinvar
1647171 100.0 T C PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.90775 0.90770 0.13656 None None None None None None PXDN|0.054174855|61.43%
View 17507_s32 2 rs1863135
dbSNP Clinvar
1652822 100.0 T G PASS 1/1 91 SYNONYMOUS_CODING LOW None 0.93550 0.93550 0.10085 None None None None None None PXDN|0.054174855|61.43%
View 17507_s32 2 rs17841813
dbSNP Clinvar
1664654 100.0 A G PASS 1/1 42 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81090 0.81090 0.28651 None None None None None None PXDN|0.054174855|61.43%

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 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%

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 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%
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%

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 rs17522826
dbSNP Clinvar
53070914 100.0 G A PASS 1/1 40 None None None 0.19229 0.19230 0.03 None None None None None None TCF4|0.999272266|0.38%
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%

WNT9A

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 rs3795768
dbSNP Clinvar
228113163 100.0 A G PASS 1/1 54 SYNONYMOUS_CODING LOW None 0.68770 0.68770 0.24649 None None None None None None WNT9A|0.206885197|35.91%

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 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 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 rs4782362
dbSNP Clinvar
88505734 100.0 C T PASS 1/1 19 SYNONYMOUS_CODING LOW None 0.98722 0.98720 0.01205 None None None None None None ZNF469|0.000923153|95.92%
View 17507_s32 16 rs4782301
dbSNP Clinvar
88505635 100.0 A G PASS 1/1 24 SYNONYMOUS_CODING LOW None 0.79633 0.79630 0.22434 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 rs9938800
dbSNP Clinvar
88497400 100.0 G A PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.90256 0.90260 None None None None None None ZNF469|0.000923153|95.92%
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 rs5882753
dbSNP Clinvar
20739774 100.0 AT A PASS 1/1 81 None None None 0.86362 0.86360 None None None None None None ABCB5|0.12579132|46.5%
View 17507_s32 7 rs17143187
dbSNP Clinvar
20666235 100.0 G C PASS 1/1 53 None None None 0.14617 0.14620 0.00864 None None None None None None ABCB5|0.12579132|46.5%
View 17507_s32 6 rs743003
dbSNP Clinvar
75901292 100.0 C T PASS 1/1 48 None None None 0.81510 0.81510 None None None None None None COL12A1|0.494206072|16.13%
View 17507_s32 5 rs13159365
dbSNP Clinvar
135389433 100.0 C T PASS 1/1 28 None None None 0.36282 0.36280 None None None None None None TGFBI|0.999587957|0.3%
View 17507_s32 5 rs881289
dbSNP Clinvar
90059001 100.0 T A PASS 1/1 26 None None None 0.72844 0.72840 None None None None None None ADGRV1|0.328571635|25.58%
View 17507_s32 5 rs34894132
dbSNP Clinvar
90052263 100.0 T TC PASS 1/1 25 None None None 0.38518 0.38520 None None None None None None ADGRV1|0.328571635|25.58%