+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 34

+ Genes associated with diseases 26

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL5A1, COL5A2, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, PIKFYVE, PRDM5, PXDN, SIX5, TCF4, ZEB1, 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)
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)
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)
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

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL5A1, COL5A2, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, PIKFYVE, PRDM5, PXDN, SIX5, TCF4, ZEB1, 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
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
PIKFYVE Corneal fleck dystrophy
PRDM5 Brittle cornea syndrome 2
PXDN Corneal opacification with other ocular anomalies
SIX5 Branchiootorenal syndrome 2
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: 263
Number of Genes: 34

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 16441_s18 1 rs1762114
dbSNP Clinvar 		94471075 100.0 A G PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 None None None None None None ABCA4|0.440503373|18.63%
View 16441_s18 1 rs4847281
dbSNP Clinvar 		94578548 100.0 T C PASS 1/1 26 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 16441_s18 7 rs6461515
dbSNP Clinvar 		20778646 100.0 G A PASS 1/1 11 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 16441_s18 16 rs6416668
dbSNP Clinvar 		16271357 100.0 T C PASS 1/1 45 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 16441_s18 16 rs7500834
dbSNP Clinvar 		16272670 100.0 T C PASS 1/1 127 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 16441_s18 16 rs9930984
dbSNP Clinvar 		77353973 100.0 G T PASS 1/1 129 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 16441_s18 16 rs12935229
dbSNP Clinvar 		77328895 100.0 C T PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.09380 None None None None None None ADAMTS18|0.112557021|48.75%
View 16441_s18 16 rs35296483
dbSNP Clinvar 		77327018 100.0 G A PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.12420 0.12420 0.09449 None None None None None None ADAMTS18|0.112557021|48.75%
View 16441_s18 16 rs11640912
dbSNP Clinvar 		77359919 100.0 A T PASS 1/1 47 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 16441_s18 16 rs11643211
dbSNP Clinvar 		77401545 100.0 A G PASS 1/1 15 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 16441_s18 16 rs12935394
dbSNP Clinvar 		77328990 100.0 C A PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.11402 0.11400 0.09388 0.92 0.00 None None None None None None ADAMTS18|0.112557021|48.75%
View 16441_s18 16 rs8059275
dbSNP Clinvar 		77389956 100.0 A G PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.88219 0.88220 0.12527 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 16441_s18 15 rs4362360
dbSNP Clinvar 		86940622 100.0 T C PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.74421 0.74420 0.39279 None None None None None None AGBL1|0.082073978|54.74%
View 16441_s18 15 rs1006030
dbSNP Clinvar 		87531281 100.0 A C PASS 1/1 75 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 16441_s18 11 rs1800009
dbSNP Clinvar 		61730234 100.0 T C PASS 1/1 38 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 16441_s18 11 rs1800007
dbSNP Clinvar 		61719387 100.0 T C PASS 1/1 31 None None None 0.68051 0.68050 0.44732 None None None None None None BEST1|0.0975286|51.61%
View 16441_s18 11 rs1109748
dbSNP Clinvar 		61722645 100.0 C A PASS 1/1 128 SYNONYMOUS_CODING LOW None 0.31749 0.31750 0.07653 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 16441_s18 6 rs594012
dbSNP Clinvar 		75841722 100.0 A T PASS 1/1 20 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 16441_s18 10 rs805698
dbSNP Clinvar 		105816916 100.0 C T PASS 1/1 25 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 16441_s18 10 rs805701
dbSNP Clinvar 		105819956 100.0 G A PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.55252 0.55250 0.44480 None None None None None None COL17A1|0.220252717|34.39%
View 16441_s18 10 rs805708
dbSNP Clinvar 		105824333 100.0 G A PASS 1/1 52 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 16441_s18 10 rs805722
dbSNP Clinvar 		105810400 100.0 T C PASS 1/1 36 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 16441_s18 10 rs2476958
dbSNP Clinvar 		105796819 100.0 A G PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.98602 0.98600 0.01377 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 16441_s18 12 rs2276454
dbSNP Clinvar 		48376291 100.0 G A PASS 1/1 16 SYNONYMOUS_CODING LOW None 0.42971 0.42970 0.38682 None None None None None None COL2A1|0.956600158|2.04%
View 16441_s18 12 rs3737548
dbSNP Clinvar 		48391416 100.0 G T PASS 1/1 31 SYNONYMOUS_CODING LOW None 0.21925 0.21920 0.20145 None None None None None None COL2A1|0.956600158|2.04%
View 16441_s18 12 rs1635553
dbSNP Clinvar 		48375568 100.0 A G PASS 1/1 14 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.45279 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 16441_s18 13 rs61749897
dbSNP Clinvar 		110838814 100.0 A G PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.09625 0.09625 0.07120 None None None None None None COL4A1|0.224151486|33.94%
View 16441_s18 13 rs532625
dbSNP Clinvar 		110864225 100.0 A T PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.47284 0.47280 0.43957 None None None None None None COL4A1|0.224151486|33.94%
View 16441_s18 13 rs9515185
dbSNP Clinvar 		110959356 100.0 C G PASS 1/1 60 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 16441_s18 13 rs536174
dbSNP Clinvar 		110839550 100.0 T G PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
View 16441_s18 13 rs1373744
dbSNP Clinvar 		110843985 100.0 T C PASS 1/1 25 None None None 0.91613 0.91610 None None None None None None COL4A1|0.224151486|33.94%

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 16441_s18 13 rs409858
dbSNP Clinvar 		111154061 100.0 T C PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05167 None None None None None None COL4A2|0.044971251|64.22%
View 16441_s18 13 rs438758
dbSNP Clinvar 		111155773 100.0 T C PASS 1/1 37 SYNONYMOUS_CODING LOW None 0.98023 0.98020 0.01286 None None None None None None COL4A2|0.044971251|64.22%
View 16441_s18 13 rs4103
dbSNP Clinvar 		111098226 100.0 C T PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.48987 None None None None None None COL4A2|0.044971251|64.22%
View 16441_s18 13 rs4238272
dbSNP Clinvar 		111077197 100.0 G A PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.94269 0.94270 0.06729 None None None None None None COL4A2|0.044971251|64.22%
View 16441_s18 13 rs4771683
dbSNP Clinvar 		111156499 100.0 C T PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.05438 None None None None None None COL4A2|0.044971251|64.22%
View 16441_s18 13 rs439831
dbSNP Clinvar 		111154058 100.0 T A PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.05156 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 16441_s18 2 rs6436669
dbSNP Clinvar 		228113175 100.0 A G PASS 1/1 66 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 16441_s18 2 rs10178458
dbSNP Clinvar 		228111435 100.0 T C PASS 1/1 26 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 16441_s18 2 rs10205042
dbSNP Clinvar 		228128540 100.0 C T PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.76757 0.76760 0.28196 None None None None None None COL4A3|0.119573089|47.51%

COL5A1
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 16441_s18 9 rs3124299
dbSNP Clinvar 		137619195 100.0 C T PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.34265 0.34270 0.33215 None None None None None None COL5A1|0.207487878|35.85%

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 16441_s18 2 rs6434312
dbSNP Clinvar 		189907937 100.0 A G PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.02868 None None None None None None COL5A2|0.575233366|12.81%
View 16441_s18 2 rs2229495
dbSNP Clinvar 		189932831 100.0 T C PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.94289 0.94290 0.03737 None None None None None None COL5A2|0.575233366|12.81%
View 16441_s18 2 rs4128539
dbSNP Clinvar 		189974958 100.0 G T PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.88858 0.88860 0.06005 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 16441_s18 5 rs2438378
dbSNP Clinvar 		90119324 100.0 G A PASS 1/1 29 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 16441_s18 5 rs2438374
dbSNP Clinvar 		90107108 100.0 A G PASS 1/1 84 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 16441_s18 10 rs2230396
dbSNP Clinvar 		33209266 100.0 G T PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.78455 0.78450 0.17446 None None None None None None ITGB1|0.816912657|5.38%

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 16441_s18 17 rs8182306
dbSNP Clinvar 		39661689 100.0 G A PASS 1/1 35 SYNONYMOUS_CODING LOW None 0.85503 0.85500 0.13248 None None None None None None KRT13|0.071438602|57.11%
View 16441_s18 17 rs9891361
dbSNP Clinvar 		39659913 100.0 G A PASS 1/1 48 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 16441_s18 17 rs4796697
dbSNP Clinvar 		39659194 100.0 T C PASS 1/1 114 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 16441_s18 17 rs897420
dbSNP Clinvar 		39670912 100.0 G C PASS 1/1 46 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 16441_s18 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%

KRT16
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 16441_s18 17 rs4796681
dbSNP Clinvar 		39767744 100.0 A G PASS 1/1 120 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 12 rs4432093
dbSNP Clinvar 		53186122 100.0 G A PASS 1/1 62 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 3 rs4685689
dbSNP Clinvar 		3886580 100.0 A G PASS 1/1 75 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%

LTBP2
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 16441_s18 14 rs862031
dbSNP Clinvar 		74991855 100.0 A G PASS 1/1 103 SYNONYMOUS_CODING LOW None 0.72824 0.72820 0.28618 None None None None None None LTBP2|0.184719306|38.39%
View 16441_s18 14 rs699374
dbSNP Clinvar 		74992800 100.0 A G PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.37879 0.37880 0.35335 None None None None None None LTBP2|0.184719306|38.39%

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 16441_s18 1 rs1064261
dbSNP Clinvar 		11288758 100.0 G A PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.70048 0.70050 0.38244 None None None None None None MTOR|0.997612705|0.59%
View 16441_s18 1 rs1135172
dbSNP Clinvar 		11301714 100.0 A G PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.63958 0.63960 0.41466 None None None None None None MTOR|0.997612705|0.59%
View 16441_s18 1 rs1057079
dbSNP Clinvar 		11205058 100.0 C T PASS 1/1 28 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
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 16441_s18 3 rs1254392
dbSNP Clinvar 		123368013 100.0 A G PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.39617 0.39620 0.22459 None None None None None None MYLK|0.503223171|15.7%
View 16441_s18 3 rs820463
dbSNP Clinvar 		123357037 100.0 A G PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.37440 0.37440 0.19791 None None None None None None MYLK|0.503223171|15.7%
View 16441_s18 3 rs9840993
dbSNP Clinvar 		123457893 100.0 G A PASS 1/1 103 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 16441_s18 3 rs4678047
dbSNP Clinvar 		123452838 100.0 G A PASS 1/1 14 SYNONYMOUS_CODING LOW None 0.63279 0.63280 0.42565 None None None None None None MYLK|0.503223171|15.7%
View 16441_s18 3 rs9833275
dbSNP Clinvar 		123451773 100.0 G C PASS 1/1 82 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%

PIK3CG
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 16441_s18 7 rs849389
dbSNP Clinvar 		106508978 100.0 A G PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.93950 0.93950 0.08258 None None None None None None PIK3CG|0.990082262|1.08%
View 16441_s18 7 rs849390
dbSNP Clinvar 		106508987 100.0 T C PASS 1/1 63 SYNONYMOUS_CODING LOW None 0.94090 0.94090 0.08127 None None None None None None PIK3CG|0.990082262|1.08%

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 16441_s18 2 rs10932259
dbSNP Clinvar 		209184999 100.0 C T PASS 1/1 49 SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.07787 None None None None None None PIKFYVE|0.407766308|20.32%
View 16441_s18 2 rs2363468
dbSNP Clinvar 		209190330 100.0 T C PASS 1/1 51 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 16441_s18 2 rs893254
dbSNP Clinvar 		209190519 100.0 A T PASS 1/1 60 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 16441_s18 2 rs893253
dbSNP Clinvar 		209190528 100.0 C G PASS 1/1 58 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 16441_s18 2 rs1529979
dbSNP Clinvar 		209191082 100.0 C A PASS 1/1 48 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 16441_s18 2 rs1529978
dbSNP Clinvar 		209191099 100.0 T C PASS 1/1 48 SYNONYMOUS_CODING LOW None 0.99601 0.99600 0.00538 None None None None None None PIKFYVE|0.407766308|20.32%
View 16441_s18 2 rs2304545
dbSNP Clinvar 		209212707 100.0 G A PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.71605 0.71610 0.31693 None None None None None None PIKFYVE|0.407766308|20.32%
View 16441_s18 2 rs994697
dbSNP Clinvar 		209215586 100.0 A G PASS 1/1 110 SYNONYMOUS_CODING LOW None 0.91114 0.91110 0.07812 None None None None None None PIKFYVE|0.407766308|20.32%
View 16441_s18 2 rs10932258
dbSNP Clinvar 		209184980 100.0 G A PASS 1/1 49 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%

PRDM5
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 16441_s18 4 rs12499000
dbSNP Clinvar 		121706201 100.0 A G PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.13738 0.13740 0.19983 None None None None None None PRDM5|0.189342478|37.9%

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 16441_s18 2 rs1863135
dbSNP Clinvar 		1652822 100.0 T G PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.93550 0.93550 0.10085 None None None None None None PXDN|0.054174855|61.43%
View 16441_s18 2 rs6730800
dbSNP Clinvar 		1647171 100.0 T C PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.90775 0.90770 0.13656 None None None None None None PXDN|0.054174855|61.43%
View 16441_s18 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%

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 16441_s18 12 rs4767884
dbSNP Clinvar 		120661977 100.0 T C PASS 1/1 122 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 16441_s18 10 rs2243639
dbSNP Clinvar 		81701722 100.0 T C PASS 1/1 67 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%

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 16441_s18 19 rs2014576
dbSNP Clinvar 		46269076 100.0 G A PASS 1/1 18 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 16441_s18 19 rs2014377
dbSNP Clinvar 		46269313 100.0 G C PASS 1/1 118 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 16441_s18 18 rs611326
dbSNP Clinvar 		53303101 100.0 C G PASS 1/1 52 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%

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 16441_s18 10 rs7918614
dbSNP Clinvar 		31750099 100.0 C T PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.08586 0.08586 0.06428 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 16441_s18 16 rs7199961
dbSNP Clinvar 		88495407 100.0 G C PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.99161 0.99160 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 16441_s18 16 rs1983014
dbSNP Clinvar 		88502505 100.0 A G PASS 1/1 44 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 16441_s18 16 rs904783
dbSNP Clinvar 		88504868 100.0 A G PASS 1/1 49 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 16441_s18 16 rs4782300
dbSNP Clinvar 		88498221 100.0 C T PASS 1/1 75 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 16441_s18 16 rs7197071
dbSNP Clinvar 		88497446 100.0 A G PASS 1/1 86 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 16441_s18 16 rs12445417
dbSNP Clinvar 		88498297 100.0 T G PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.84645 0.84640 0.16032 None None None None None None ZNF469|0.000923153|95.92%
View 16441_s18 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%
View 16441_s18 16 rs12918876
dbSNP Clinvar 		88496008 100.0 T C PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.60443 0.60440 None None None None None None ZNF469|0.000923153|95.92%
View 16441_s18 16 rs4782362
dbSNP Clinvar 		88505734 100.0 C T PASS 1/1 18 SYNONYMOUS_CODING LOW None 0.98722 0.98720 0.01205 None None None None None None ZNF469|0.000923153|95.92%
View 16441_s18 16 rs9931465
dbSNP Clinvar 		88499539 100.0 C G PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.77955 0.77960 0.18034 None None None None None None ZNF469|0.000923153|95.92%
View 16441_s18 16 rs12927001
dbSNP Clinvar 		88495654 100.0 A G PASS 1/1 20 SYNONYMOUS_CODING LOW None 0.87480 0.87480 None None None None None None ZNF469|0.000923153|95.92%
View 16441_s18 16 rs4782301
dbSNP Clinvar 		88505635 100.0 A G PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.79633 0.79630 0.22434 None None None None None None ZNF469|0.000923153|95.92%
View 16441_s18 16 rs3812953
dbSNP Clinvar 		88502482 100.0 C T PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.47005 0.47000 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 16441_s18 7 rs12669400
dbSNP Clinvar 		20782319 100.0 T C PASS 1/1 30 None None None 0.79433 0.79430 None None None None None None ABCB5|0.12579132|46.5%