+ 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 29

+ Genes associated with diseases 22

Genes at Omim

ABCC6, ADAMTS18, AGBL1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A3, COL4A4, COL5A1, COL6A1, CYP4V2, GSN, KRT12, KRT13, MYLK, PIKFYVE, SIX5, SLC4A11, TACSTD2, TCF4, ZNF469,
ABCC6 Arterial calcification, generalized, of infancy, 2, 614473 (3)
Pseudoxanthoma elasticum, 264800 (3)
Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADAMTS18 Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
COL12A1 Bethlem myopathy 2, 616471 (3)
?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3)
{Hemorrhage, intracerebral, susceptibility to}, 614519 (3)
Brain small vessel disease with or without ocular anomalies, 175780 (3)
?Retinal arteries, tortuosity of, 180000 (3)
Schizencephaly, 269160 (3)
COL4A3 Alport syndrome 2, autosomal recessive, 203780 (3)
Alport syndrome 3, autosomal dominant, 104200 (3)
Hematuria, benign familial, 141200 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COL6A1 Bethlem myopathy 1, 158810 (3)
Ullrich congenital muscular dystrophy 1, 254090 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
GSN Amyloidosis, Finnish type, 105120 (3)
KRT12 Meesmann corneal dystrophy, 122100 (3)
KRT13 White sponge nevus 2, 615785 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
PIKFYVE Corneal fleck dystrophy, 121850 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SLC4A11 Corneal dystrophy, Fuchs endothelial, 4, 613268 (3)
Corneal endothelial dystrophy and perceptive deafness, 217400 (3)
Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
TACSTD2 Corneal dystrophy, gelatinous drop-like, 204870 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
ZNF469 Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCC6, ADAMTS18, AGBL1, COL12A1, COL17A1, COL2A1, COL4A1, COL4A3, COL4A4, COL5A1, COL6A1, CYP4V2, GSN, KRT12, KRT13, MYLK, PIKFYVE, SIX5, SLC4A11, TACSTD2, TCF4, ZNF469,
ABCC6 Pseudoxanthoma elasticum
ADAMTS18 Knobloch syndrome 2
Microcornea, myopic chorioretinal atrophy, and telecanthus
Retinal dystrophy, early onset, autosomal recessive
AGBL1 Corneal dystrophy, Fuchs endothelial, 8
COL12A1 Bethlem myopathy 2
Ullrich congenital muscular dystrophy 2
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
COL4A1 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
Brain small vessel disease with or without ocular anomalies
Anterior segment dysgenesis with cerebral involvement
Porencephaly 1
Retinal artery tortuosity
Schizencephaly
COL4A3 Alport syndrome, autosomal dominant
Alport syndrome, autosomal recessive
COL4A4 Alport syndrome, autosomal recessive
COL5A1 Ehlers-Danlos syndrome, type I
Ehlers-Danlos syndrome, type II
COL6A1 Ullrich congenital muscular dystrophy 1
Bethlem myopathy 1
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
GSN Amyloidosis, Finnish type
KRT12 Meesmann corneal dystrophy
KRT13 White sponge nevus 2
MYLK Aortic aneurysm, familial thoracic 7
PIKFYVE Corneal fleck dystrophy
SIX5 Branchiootorenal syndrome 2
SLC4A11 Cryohydrocytosis
TACSTD2 Corneal dystrophy, gelatinous drop-like
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
ZNF469 Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 79
Number of Genes: 29

Export to: CSV
  • Page 1 of 1

ABCB5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 7 rs17143212
dbSNP Clinvar 		20682884 100.0 C T PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.07049 0.07049 0.04117 0.00 0.83 None None None None None None ABCB5|0.12579132|46.5%
View 12067_s13 7 rs6461515
dbSNP Clinvar 		20778646 100.0 G A PASS 0/1 51 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 12067_s13 16 rs6416668
dbSNP Clinvar 		16271357 100.0 T C PASS 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.96426 0.96430 0.03556 0.29 0.00 None None None None None None ABCC6|0.022547171|72.9%

ADAMTS18
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 16 rs3743749
dbSNP Clinvar 		77323235 100.0 C G PASS 1/1 86 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 12067_s13 16 rs11640912
dbSNP Clinvar 		77359919 100.0 A T PASS 0/1 76 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 12067_s13 16 rs9930984
dbSNP Clinvar 		77353973 100.0 G T PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.63498 0.63500 0.48561 0.12 0.00 None None None None None None ADAMTS18|0.112557021|48.75%

AGBL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 15 rs8028043
dbSNP Clinvar 		87217613 100.0 A G PASS 1/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.89217 0.89220 0.11030 1.00 0.00 None None None None None None AGBL1|0.082073978|54.74%

COL12A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 6 rs970547
dbSNP Clinvar 		75797302 100.0 C T PASS 1/1 21 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 12067_s13 6 rs240736
dbSNP Clinvar 		75848181 100.0 A G PASS 0/1 38 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 12067_s13 10 rs805698
dbSNP Clinvar 		105816916 100.0 C T PASS 0/1 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 12067_s13 10 rs805708
dbSNP Clinvar 		105824333 90.0 G A PASS 0/1 18 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 12067_s13 10 rs805722
dbSNP Clinvar 		105810400 100.0 T C PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.69369 0.69370 0.28095 0.64 0.00 None None None None None None COL17A1|0.220252717|34.39%

COL2A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 12 rs3803183
dbSNP Clinvar 		48398080 100.0 T A PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.68530 0.68530 0.21085 0.18 0.00 None None None None None None COL2A1|0.956600158|2.04%
View 12067_s13 12 rs2070739
dbSNP Clinvar 		48367976 100.0 C T PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.17093 0.17090 0.06981 0.05 1.00 None None None None None None COL2A1|0.956600158|2.04%

COL4A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 13 rs145018661
dbSNP Clinvar 		110828986 100.0 C G PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.06 None None None None None None COL4A1|0.224151486|33.94%
View 12067_s13 13 rs536174
dbSNP Clinvar 		110839550 100.0 T G PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None COL4A1|0.224151486|33.94%
View 12067_s13 13 rs9515185
dbSNP Clinvar 		110959356 100.0 C G PASS 1/1 27 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 12067_s13 13 rs3742207
dbSNP Clinvar 		110818598 100.0 T G PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.28834 0.28830 0.32124 0.25 None None None None None None COL4A1|0.224151486|33.94%

COL4A3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 2 rs10178458
dbSNP Clinvar 		228111435 100.0 T C PASS 1/1 54 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 12067_s13 2 rs6436669
dbSNP Clinvar 		228113175 100.0 A G PASS 1/1 109 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%

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 12067_s13 2 rs2229813
dbSNP Clinvar 		227892720 100.0 C T PASS 0/1 109 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 12067_s13 2 rs1800517
dbSNP Clinvar 		227915832 100.0 G A PASS 0/1 62 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 12067_s13 2 rs2229814
dbSNP Clinvar 		227954599 100.0 G A PASS 1/1 56 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 12067_s13 2 rs3752895
dbSNP Clinvar 		227886773 100.0 A G PASS 0/1 53 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 12067_s13 9 rs758009092
dbSNP Clinvar 		137582836 100.0 C T PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.02 None None None None None None COL5A1|0.207487878|35.85%
View 12067_s13 9 rs145178917
dbSNP Clinvar 		137591855 54.0 G T PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.00739 0.00739 0.00008 0.00 0.91 None None None None None None COL5A1|0.207487878|35.85%

COL6A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 21 rs13051496
dbSNP Clinvar 		47423509 100.0 C T PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.10883 0.10880 0.16187 0.06 0.04 None None None None None None COL6A1|0.085741402|53.99%
View 12067_s13 21 rs201227573
dbSNP Clinvar 		47419113 100.0 G A PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.04 0.99 None None None None None None COL6A1|0.085741402|53.99%

CYP4V2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 4 rs13146272
dbSNP Clinvar 		187120211 100.0 C A PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.55931 0.55930 0.37175 1.00 0.00 None None None None None None CYP4V2|0.027940176|70.46%
View 12067_s13 4 rs1055138
dbSNP Clinvar 		187113041 100.0 C G PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.40974 0.40970 0.46360 0.83 0.00 None None None None None None CYP4V2|0.027940176|70.46%

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 12067_s13 5 rs1878878
dbSNP Clinvar 		89990324 100.0 A G PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.80851 0.80850 0.26875 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12067_s13 5 rs16868972
dbSNP Clinvar 		89979750 100.0 G T PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.31370 0.31370 0.22990 0.06 1.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12067_s13 5 rs41303352
dbSNP Clinvar 		89979691 100.0 A G PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.18921 0.09 0.01 None None None None None None ADGRV1|0.328571635|25.58%
View 12067_s13 5 rs4916684
dbSNP Clinvar 		89979589 100.0 G A PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.80371 0.80370 0.27248 0.89 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12067_s13 5 rs2366777
dbSNP Clinvar 		89943571 100.0 G T PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.81030 0.81030 0.27251 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12067_s13 5 rs2438378
dbSNP Clinvar 		90119324 100.0 G A PASS 1/1 39 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 12067_s13 5 rs2366928
dbSNP Clinvar 		90024735 100.0 G A PASS 0/1 32 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 12067_s13 5 rs16869032
dbSNP Clinvar 		90016871 100.0 G A PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.22185 0.22180 0.13831 0.00 0.84 None None None None None None ADGRV1|0.328571635|25.58%
View 12067_s13 5 rs2438374
dbSNP Clinvar 		90107108 100.0 A G PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.94609 0.94610 0.06388 1.00 0.00 None None None None None None ADGRV1|0.328571635|25.58%
View 12067_s13 5 rs77469944
dbSNP Clinvar 		90445889 100.0 A G PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.07388 0.07388 0.03879 0.06 0.00 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 12067_s13 9 rs2230287
dbSNP Clinvar 		124065224 100.0 G A PASS 0/1 32 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 12067_s13 9 rs150617780
dbSNP Clinvar 		124073053 100.0 G A PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.10 1.00 None None None None None None GSN|0.728577212|7.7%

KRT12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 17 rs11650915
dbSNP Clinvar 		39023396 100.0 G A PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.30951 0.30950 0.27126 1.00 0.00 None None None None None None KRT12|0.089362402|53.37%

KRT13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 17 rs4796697
dbSNP Clinvar 		39659194 100.0 T C PASS 1/1 87 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 12067_s13 17 rs9891361
dbSNP Clinvar 		39659913 100.0 G A PASS 1/1 76 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%

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 12067_s13 17 rs1050784
dbSNP Clinvar 		39674641 100.0 T C PASS 1/1 40 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 12067_s13 17 rs897420
dbSNP Clinvar 		39670912 100.0 G C PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.97284 0.97280 0.02791 0.62 0.00 None None None None None None KRT15|0.103828379|50.45%

KRT23
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 17 rs9257
dbSNP Clinvar 		39084504 100.0 T C PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.58327 0.58330 0.45002 1.00 0.00 None None None None None None KRT23|0.054190188|61.41%

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 12067_s13 17 rs2462961
dbSNP Clinvar 		38855772 100.0 T C PASS 0/1 78 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 12067_s13 17 rs874889
dbSNP Clinvar 		38857446 100.0 C A PASS 0/1 160 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%

MAP3K19
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 2 rs1112542
dbSNP Clinvar 		135744416 100.0 C G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.12520 0.12520 0.05036 0.02 0.21 None None None None None None MAP3K19|0.070109416|57.46%
View 12067_s13 2 rs3905317
dbSNP Clinvar 		135744007 100.0 T C PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.09225 0.09225 0.00830 0.00 0.05 None None None None None None MAP3K19|0.070109416|57.46%
View 12067_s13 2 rs55999472
dbSNP Clinvar 		135744469 100.0 T C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.00319 0.00320 0.05 0.08 None None None None None None MAP3K19|0.070109416|57.46%

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 12067_s13 3 rs3732486
dbSNP Clinvar 		123419733 100.0 A G PASS 0/1 65 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 12067_s13 3 rs9840993
dbSNP Clinvar 		123457893 100.0 G A PASS 1/1 84 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 12067_s13 3 rs3796164
dbSNP Clinvar 		123453061 100.0 A G PASS 0/1 46 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%
View 12067_s13 3 rs9833275
dbSNP Clinvar 		123451773 100.0 G C PASS 1/1 72 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 12067_s13 3 rs3732487
dbSNP Clinvar 		123419573 100.0 G T PASS 0/1 98 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%

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 12067_s13 2 rs893254
dbSNP Clinvar 		209190519 100.0 A T PASS 1/1 26 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 12067_s13 2 rs10932258
dbSNP Clinvar 		209184980 100.0 G A PASS 1/1 22 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 12067_s13 2 rs1529979
dbSNP Clinvar 		209191082 100.0 C A PASS 1/1 39 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 12067_s13 2 rs893253
dbSNP Clinvar 		209190528 100.0 C G PASS 1/1 26 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 12067_s13 2 rs2363468
dbSNP Clinvar 		209190330 100.0 T C PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.91174 0.91170 0.07758 0.88 0.00 None None None None None None PIKFYVE|0.407766308|20.32%

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 12067_s13 12 rs4767884
dbSNP Clinvar 		120661977 100.0 T C PASS 1/1 64 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 12067_s13 19 rs2014576
dbSNP Clinvar 		46269076 100.0 G A PASS 1/1 25 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 12067_s13 19 rs2014377
dbSNP Clinvar 		46269313 100.0 G C PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.90395 0.90400 0.12762 1.00 0.00 None None None None None None SIX5|0.127519574|46.26%

SLC4A11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 12067_s13 20 rs3810562
dbSNP Clinvar 		3218634 100.0 G C PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.64157 0.64160 0.67 0.00 None None None None None None SLC4A11|0.04004945|65.76%
View 12067_s13 20 rs763965682
dbSNP Clinvar 		3210344 100.0 C A PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.81 None None None None None None SLC4A11|0.04004945|65.76%

TACSTD2
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 12067_s13 1 rs14008
dbSNP Clinvar 		59042181 100.0 G T PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.15715 0.15710 0.14921 0.06 0.02 None None None None None None TACSTD2|0.037867047|66.49%

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 12067_s13 18 rs611326
dbSNP Clinvar 		53303101 100.0 C G PASS 1/1 73 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%

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 12067_s13 16 rs904783
dbSNP Clinvar 		88504868 100.0 A G PASS 1/1 53 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 12067_s13 16 rs1105066
dbSNP Clinvar 		88504850 100.0 G C PASS 0/1 53 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 12067_s13 16 rs140056980
dbSNP Clinvar 		88504206 54.0 G T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.04 None None None None None None ZNF469|0.000923153|95.92%
View 12067_s13 16 rs1983014
dbSNP Clinvar 		88502505 100.0 A G PASS 1/1 67 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 12067_s13 16 rs3812956
dbSNP Clinvar 		88501971 100.0 T A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.29433 0.29430 0.33830 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 12067_s13 16 rs4782300
dbSNP Clinvar 		88498221 100.0 C T PASS 1/1 54 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 12067_s13 16 rs7197071
dbSNP Clinvar 		88497446 100.0 A G PASS 0/1 70 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 12067_s13 16 rs7199961
dbSNP Clinvar 		88495407 100.0 G C PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.99161 0.99160 0.00 None None None None None None ZNF469|0.000923153|95.92%
View 12067_s13 16 rs113937803
dbSNP Clinvar 		88495163 100.0 G A PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.04712 0.04712 0.01 None None None None None None ZNF469|0.000923153|95.92%
  • Page 1 of 1