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 at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, COL12A1, COL17A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, FOXE3, GSN, IL1RN, KERA, KRT3, LTBP2, MYLK, PIK3R1, PRDM5, PXDN, SLC4A11, TGFBI, VSX1, ZNF469,
ABCA4 Fundus flavimaculatus, 248200 (3)
{Macular degeneration, age-related, 2}, 153800 (3)
Cone-rod dystrophy 3, 604116 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
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)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (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)
GSN Amyloidosis, Finnish type, 105120 (3)
IL1RN {Gastric cancer risk after H. pylori infection}, 137215 (3)
{Microvascular complications of diabetes 4}, 612628 (3)
Interleukin 1 receptor antagonist deficiency, 612852 (3)
KERA Cornea plana 2, autosomal recessive, 217300 (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)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
PIK3R1 Immunodeficiency 36, 616005 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
SHORT syndrome, 269880 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
TGFBI Corneal dystrophy, Avellino type, 607541 (3)
Corneal dystrophy, Groenouw type I, 121900 (3)
Corneal dystrophy, Reis-Bucklers type, 608470 (3)
Corneal dystrophy, Thiel-Behnke type, 602082 (3)
Corneal dystrophy, epithelial basement membrane, 121820 (3)
Corneal dystrophy, lattice type I, 122200 (3)
Corneal dystrophy, lattice type IIIA, 608471 (3)
VSX1 Keratoconus 1, 148300 (3)
?Craniofacial anomalies and anterior segment dysgenesis syndrome, 614195 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCA4, ABCC6, ADAMTS18, AGBL1, COL12A1, COL17A1, COL4A1, COL4A2, COL4A3, COL4A4, COL5A1, FOXE3, GSN, IL1RN, KERA, KRT3, LTBP2, MYLK, PIK3R1, PRDM5, PXDN, SLC4A11, TGFBI, VSX1, ZNF469,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
ABCC6 Pseudoxanthoma elasticum
ADAMTS18 Knobloch syndrome 2
Microcornea, myopic chorioretinal atrophy, and telecanthus
Retinal dystrophy, early onset, autosomal recessive
AGBL1 Corneal dystrophy, Fuchs endothelial, 8
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
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
FOXE3 Aphakia, congenital primary
Anterior segment mesenchymal dysgenesis
GSN Amyloidosis, Finnish type
IL1RN Osteomyelitis, sterile multifocal, with periostitis and pustulosis
KERA Cornea plana 2, autosomal recessive
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
MYLK Aortic aneurysm, familial thoracic 7
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PRDM5 Brittle cornea syndrome 2
PXDN Corneal opacification with other ocular anomalies
SLC4A11 Cryohydrocytosis
TGFBI Corneal dystrophy, lattice type I
Corneal dystrophy, lattice type IIIA
Corneal dystrophy of Bowman layer, type I
Corneal dystrophy, Avellino type
Corneal dystrophy, Reis-Bucklers type
Corneal dystrophy, Thiel-Behnke type
Corneal dystrophy, Groenouw type I
Corneal dystrophy, epithelial basement membrane
VSX1 Craniofacial anomalies and anterior segment dysgenesis syndrome
Keratoconus 1
Corneal dystrophy, posterior polymorphous
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 291
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 12107_s6 1 rs6666652
dbSNP Clinvar
94461717 100.0 C A PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.17692 0.17690 0.19260 0.05 0.00 None None None None None None ABCA4|0.440503373|18.63%
View 12107_s6 1 rs6657239
dbSNP Clinvar
94564483 100.0 C T PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.05331 0.05331 0.04644 0.04 0.98 None None None None None None ABCA4|0.440503373|18.63%
View 12107_s6 1 rs4147831
dbSNP Clinvar
94544233 100.0 G A PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.09457 None None None None None None ABCA4|0.440503373|18.63%

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 12107_s6 16 rs9930886
dbSNP Clinvar
16291983 100.0 A G PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.28275 0.28270 0.31330 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 12107_s6 16 rs12935394
dbSNP Clinvar
77328990 100.0 C A PASS 0/1 106 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 12107_s6 16 rs35478105
dbSNP Clinvar
77325325 100.0 G T PASS 0/1 127 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%
View 12107_s6 16 rs3743749
dbSNP Clinvar
77323235 100.0 C G PASS 0/1 102 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 12107_s6 16 rs35296483
dbSNP Clinvar
77327018 100.0 G A PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.12420 0.12420 0.09449 None None None None None None ADAMTS18|0.112557021|48.75%
View 12107_s6 16 rs12935229
dbSNP Clinvar
77328895 100.0 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.11462 0.11460 0.09380 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 12107_s6 15 rs1566088
dbSNP Clinvar
86806029 100.0 C T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.30818 None None None None None None AGBL1|0.082073978|54.74%
View 12107_s6 15 rs1353578
dbSNP Clinvar
86800209 100.0 C T PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.53974 0.53970 0.35463 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 12107_s6 6 rs970547
dbSNP Clinvar
75797302 92.0 C T PASS 0/1 17 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 12107_s6 6 rs240736
dbSNP Clinvar
75848181 100.0 A G PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.26498 0.26500 0.29199 0.36 0.00 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 12107_s6 10 rs17116350
dbSNP Clinvar
105793750 100.0 T C PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.25859 0.25860 0.29025 1.00 0.00 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 12107_s6 13 rs3742207
dbSNP Clinvar
110818598 100.0 T G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.28834 0.28830 0.32124 0.25 None None None None None None COL4A1|0.224151486|33.94%
View 12107_s6 13 rs9515185
dbSNP Clinvar
110959356 100.0 C G PASS 0/1 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 12107_s6 13 rs7990214
dbSNP Clinvar
111111173 100.0 G A PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.49141 0.49140 0.37904 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs445348
dbSNP Clinvar
111158874 100.0 A G PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.75200 0.75200 0.12908 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs529755589
dbSNP Clinvar
111130369 100.0 G A PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.00040 0.00040 None None None None None None COL4A2|0.044971251|64.22%
View 12107_s6 13 rs7990383
dbSNP Clinvar
111111235 100.0 G A PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.50919 0.50920 0.36542 0.99 0.00 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 12107_s6 2 rs13424243
dbSNP Clinvar
228102723 100.0 G C PASS 0/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.23023 0.23020 0.35109 0.02 0.99 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 12107_s6 2 rs2229813
dbSNP Clinvar
227892720 100.0 C T PASS 0/1 85 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 12107_s6 2 rs2228557
dbSNP Clinvar
227872182 100.0 G A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.51438 0.51440 0.46041 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs1800517
dbSNP Clinvar
227915832 100.0 G A PASS 0/1 68 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 12107_s6 2 rs10203363
dbSNP Clinvar
227896976 100.0 C T PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.49501 0.49500 0.45120 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs2229812
dbSNP Clinvar
227896886 100.0 C T PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.49561 0.49560 0.45256 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs2228556
dbSNP Clinvar
227892619 100.0 C T PASS 0/1 102 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.45464 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs2229814
dbSNP Clinvar
227954599 100.0 G A PASS 0/1 74 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 12107_s6 2 rs2228555
dbSNP Clinvar
227872995 100.0 T C PASS 0/1 102 SYNONYMOUS_CODING LOW None 0.64058 0.64060 0.41430 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs3752895
dbSNP Clinvar
227886773 100.0 A G PASS 0/1 62 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%

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 12107_s6 9 rs78511105
dbSNP Clinvar
137688741 100.0 C T PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.04153 0.04153 0.03160 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 9 rs3124299
dbSNP Clinvar
137619195 100.0 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.34265 0.34270 0.33215 None None None None None None COL5A1|0.207487878|35.85%
View 12107_s6 9 rs2228560
dbSNP Clinvar
137711997 100.0 G C PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.01937 0.01937 0.42519 None None None None None None COL5A1|0.207487878|35.85%

DOCK9

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 12107_s6 13 rs2296984
dbSNP Clinvar
99457431 100.0 T G PASS 0/1 110 SYNONYMOUS_CODING LOW None 0.20587 0.20590 0.19774 None None None None None None DOCK9|0.3175759|26.27%
View 12107_s6 13 rs12428661
dbSNP Clinvar
99575568 100.0 G A PASS 0/1 45 SYNONYMOUS_CODING LOW None 0.00040 0.16750 0.13827 None None None None None None DOCK9|0.3175759|26.27%
View 12107_s6 13 rs117633128
dbSNP Clinvar
99738554 100.0 G A PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.07887 0.07887 0.07124 0.00 0.00 None None None None None None DOCK9|0.3175759|26.27%

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 12107_s6 1 rs34082359
dbSNP Clinvar
47882497 100.0 C T PASS 0/1 18 SYNONYMOUS_CODING LOW None 0.27855 0.27860 0.31318 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 12107_s6 5 rs201800819
dbSNP Clinvar
90449167 100.0 G A PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.00017 0.00 0.79 None None None None None None ADGRV1|0.328571635|25.58%
View 12107_s6 5 rs13158963
dbSNP Clinvar
90449154 100.0 G A PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.13818 0.13820 0.11756 None None None None None None ADGRV1|0.328571635|25.58%
View 12107_s6 5 rs571159068
dbSNP Clinvar
90149194 100.0 G A PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.00060 0.00060 None None None None None None ADGRV1|0.328571635|25.58%

GSN

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 12107_s6 9 rs2289070
dbSNP Clinvar
124093762 100.0 T C PASS 0/1 18 None None None 0.12440 0.12440 0.04976 0.25 0.00 None None None None None None GSN|0.728577212|7.7%
View 12107_s6 9 rs2230287
dbSNP Clinvar
124065224 100.0 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.08327 0.08327 0.01476 0.00 1.00 None None None None None None GSN|0.728577212|7.7%
View 12107_s6 9 rs9102
dbSNP Clinvar
124094800 100.0 T C PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.12440 0.12440 0.05413 None None None None None None GSN|0.728577212|7.7%

IL1RN

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 12107_s6 2 rs315952
dbSNP Clinvar
113890304 100.0 T C PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.35004 0.35000 0.33315 None None None None None None IL1RN|0.11539686|48.22%

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 12107_s6 10 rs147320657
dbSNP Clinvar
33208944 100.0 C T PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.00359 0.00359 None None None None None None ITGB1|0.816912657|5.38%
View 12107_s6 10 rs2298139
dbSNP Clinvar
33200468 100.0 G A PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.11921 0.11920 0.05085 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 12107_s6 12 rs2735333
dbSNP Clinvar
91449990 100.0 C T PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.62001 0.62000 0.36689 None None None None None None KERA|0.287600325|28.54%

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 12107_s6 17 rs11309872
dbSNP Clinvar
38858134 100.0 CA C PASS 0/1 126 FRAME_SHIFT HIGH None 0.46486 0.46490 0.36867 None None None None None None KRT24|0.036955337|66.8%
View 12107_s6 17 rs2462961
dbSNP Clinvar
38855772 100.0 T C PASS 0/1 96 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 12107_s6 17 rs874889
dbSNP Clinvar
38857446 100.0 C A PASS 0/1 171 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%

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 12107_s6 12 rs749273979
dbSNP Clinvar
53188074 100.0 C G PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 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 12107_s6 3 rs2120609
dbSNP Clinvar
3887876 100.0 T C PASS 0/1 19 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 12107_s6 3 rs3749348
dbSNP Clinvar
3886919 100.0 C T PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.21166 0.21170 0.16046 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 12107_s6 3 rs3749350
dbSNP Clinvar
3886721 75.0 C A PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.00539 0.29110 0.20560 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 12107_s6 3 rs3749349
dbSNP Clinvar
3886847 100.0 G C PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.21366 0.21370 0.16170 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 12107_s6 14 rs61505039
dbSNP Clinvar
74976452 100.0 C T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.06030 0.06030 0.00323 0.01 0.34 None None None None None None LTBP2|0.184719306|38.39%
View 12107_s6 14 rs372747742
dbSNP Clinvar
74969440 100.0 C T PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.55 0.00 None None None None None None LTBP2|0.184719306|38.39%

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 12107_s6 3 rs40305
dbSNP Clinvar
123411589 100.0 G A PASS 0/1 34 SYNONYMOUS_CODING LOW None 0.33267 0.33270 0.43665 None None None None None None MYLK|0.503223171|15.7%
View 12107_s6 3 rs3732487
dbSNP Clinvar
123419573 100.0 G T PASS 0/1 116 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 12107_s6 3 rs3732486
dbSNP Clinvar
123419733 100.0 A G PASS 0/1 73 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%
View 12107_s6 3 rs75967604
dbSNP Clinvar
123419116 100.0 GTTC G PASS 0/1 47 CODON_DELETION MODERATE None 0.15176 0.15180 0.01845 None None None None None None MYLK|0.503223171|15.7%
View 12107_s6 3 rs3796164
dbSNP Clinvar
123453061 100.0 A G PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.30192 0.30190 0.15631 0.21 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 12107_s6 7 rs1129293
dbSNP Clinvar
106513011 100.0 C T PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.25379 0.25380 0.23889 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 12107_s6 5 rs706713
dbSNP Clinvar
67522722 77.0 C T PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.41933 0.41930 0.29333 None None None None None None PIK3R1|0.917149804|3.05%
View 12107_s6 5 rs17847317
dbSNP Clinvar
67589182 100.0 T C PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.00008 None None None None None None PIK3R1|0.917149804|3.05%
View 12107_s6 5 rs3730089
dbSNP Clinvar
67588148 100.0 G A PASS 0/1 145 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%

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 12107_s6 4 rs343192
dbSNP Clinvar
121738049 100.0 T C PASS 0/1 87 SYNONYMOUS_CODING LOW None 0.27496 0.27500 0.28126 None None None None None None PRDM5|0.189342478|37.9%
View 12107_s6 4 rs12499000
dbSNP Clinvar
121706201 100.0 A G PASS 0/1 37 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 12107_s6 2 rs3811613
dbSNP Clinvar
1652660 100.0 G A PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.24481 0.24480 0.25024 None None None None None None PXDN|0.054174855|61.43%

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 12107_s6 10 rs721917
dbSNP Clinvar
81706324 100.0 A G PASS 0/1 116 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%
View 12107_s6 10 rs2243639
dbSNP Clinvar
81701722 100.0 T C PASS 0/1 55 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%

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 12107_s6 20 rs3803956
dbSNP Clinvar
3214581 100.0 C T PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.16633 0.16630 0.18622 None None None None None None SLC4A11|0.04004945|65.76%
View 12107_s6 20 rs3810562
dbSNP Clinvar
3218634 100.0 G C PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.64157 0.64160 0.67 0.00 None None None None None None SLC4A11|0.04004945|65.76%

TGFBI

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 12107_s6 5 rs1442
dbSNP Clinvar
135382989 100.0 G C PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.31769 0.31770 0.34348 None None None None None None TGFBI|0.999587957|0.3%

VSX1

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 12107_s6 20 rs56157240
dbSNP Clinvar
25059381 100.0 A T PASS 0/1 14 None None None 0.29054 0.29050 0.30157 None None None None None None VSX1|0.019829989|74.27%
View 12107_s6 20 rs12480307
dbSNP Clinvar
25059546 100.0 T C PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.29034 0.29030 0.29948 None None None None None None VSX1|0.019829989|74.27%
View 12107_s6 20 rs6138482
dbSNP Clinvar
25059442 80.0 C T PASS 0/1 14 None None None 0.21566 0.21570 0.14539 0.11 0.00 None None None None None None VSX1|0.019829989|74.27%

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 12107_s6 17 rs149931425
dbSNP Clinvar
44953783 100.0 G A PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.25 0.02 None None None None None None WNT9B|0.216421213|34.84%
View 12107_s6 17 rs4968281
dbSNP Clinvar
44950122 100.0 T C PASS 0/1 79 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 12107_s6 16 rs3812953
dbSNP Clinvar
88502482 100.0 C T PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.47005 0.47000 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs1105066
dbSNP Clinvar
88504850 100.0 G C PASS 0/1 57 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 12107_s6 16 rs12918876
dbSNP Clinvar
88496008 100.0 T C PASS 0/1 25 SYNONYMOUS_CODING LOW None 0.60443 0.60440 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs28723506
dbSNP Clinvar
88495367 100.0 G A PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.08067 0.08067 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 12107_s6 16 rs3812956
dbSNP Clinvar
88501971 100.0 T A PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.29433 0.29430 0.33830 0.00 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 12107_s6 3 rs57186134
dbSNP Clinvar
123420426 100.0 G A PASS 0/1 28 None None None 0.24461 0.24460 None None None None None None MYLK|0.503223171|15.7%
View 12107_s6 3 rs2305631
dbSNP Clinvar
123411522 100.0 G C PASS 0/1 34 None None None 0.14018 0.14020 None None None None None None MYLK|0.503223171|15.7%
View 12107_s6 3 rs371409878
dbSNP Clinvar
123338951 51.0 T TA PASS 0/1 12 None None None None None None None None None MYLK|0.503223171|15.7%
View 12107_s6 3 rs60174052
dbSNP Clinvar
123333228 100.0 G C PASS 0/1 32 None None None 0.07748 0.07748 0.01015 None None None None None None MYLK|0.503223171|15.7%
View 12107_s6 3 rs796095304,rs35930843
dbSNP Clinvar
123332875 100.0 GT G PASS 0/1 44 None None None None None None None None None MYLK|0.503223171|15.7%
View 12107_s6 3 rs202103447
dbSNP Clinvar
12650847 100.0 T TA PASS 0/1 33 None None None 0.01877 0.01877 0.00056 None None None None None None RAF1|0.540744918|14.17%
View 12107_s6 3 rs3749351
dbSNP Clinvar
3886180 100.0 T C PASS 0/1 29 START_GAINED LOW None 0.69768 0.69770 None None None None None None SUMF1|0.2711895|29.81%,LRRN1|0.165542281|40.86%
View 12107_s6 2 . 228153667 100.0 G GT PASS 0/1 23 None None None None None None None None None COL4A3|0.119573089|47.51%
View 12107_s6 2 rs55997063
dbSNP Clinvar
228118156 100.0 T A PASS 0/1 42 None None None 0.07328 0.07328 0.05964 None None None None None None COL4A3|0.119573089|47.51%
View 12107_s6 2 rs12612699
dbSNP Clinvar
228112439 100.0 C T PASS 0/1 23 None None None 0.08886 0.08886 None None None None None None COL4A3|0.119573089|47.51%
View 12107_s6 2 rs73082223
dbSNP Clinvar
227973892 100.0 T C PASS 0/1 19 None None None 0.35224 0.35220 0.26275 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs59938187
dbSNP Clinvar
227973878 100.0 C T PASS 0/1 19 None None None 0.28455 0.28450 0.19194 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs58363082
dbSNP Clinvar
227973873 100.0 T C PASS 0/1 19 None None None 0.28674 0.28670 0.19524 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs12475686
dbSNP Clinvar
227973623 100.0 A G PASS 0/1 70 None None None 0.60044 0.60040 0.37710 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs10174459
dbSNP Clinvar
227973193 100.0 G A PASS 0/1 17 None None None 0.18510 0.18510 None None None None None None COL4A4|0.099677436|51.24%
View 12107_s6 2 rs10707643,rs573969560,rs398081123,rs796369993
dbSNP Clinvar
227967830 100.0 GA G PASS 0/1 41 None None None 0.65520 None None None None None None COL4A4|0.099677436|51.24%