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

AGBL1,
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)

Genes at Clinical Genomics Database

AGBL1,
AGBL1 Corneal dystrophy, Fuchs endothelial, 8

Genes at HGMD

Summary

Number of Variants: 16
Number of Genes: 1

Export to: CSV
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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 2632_s12 15 rs1006030
dbSNP Clinvar
87531281 100.0 A C PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.19396 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs8028043
dbSNP Clinvar
87217613 100.0 A G PASS 1/1 34 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 2632_s12 15 rs11856833
dbSNP Clinvar
86807884 100.0 A C PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.13379 0.13380 0.17401 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs11857527
dbSNP Clinvar
86807843 100.0 T C PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.13359 0.13360 0.16900 0.05 0.00 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs10520617
dbSNP Clinvar
86807542 100.0 C T PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.12800 0.12800 0.16026 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs1566088
dbSNP Clinvar
86806029 100.0 C T PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.30818 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs1353578
dbSNP Clinvar
86800209 100.0 C T PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.53974 0.53970 0.35463 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs144777747
dbSNP Clinvar
87066168 100.0 G A PASS 0/1 20 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.01737 0.01737 0.01182 0.14 0.13 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs4362360
dbSNP Clinvar
86940622 100.0 T C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.74421 0.74420 0.39279 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs11858435
dbSNP Clinvar
86814866 100.0 A G PASS 1/1 36 SYNONYMOUS_CODING LOW None 0.68211 0.68210 0.26808 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs184053635
dbSNP Clinvar
86807970 100.0 C G PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00099 0.00 1.00 None None None None None None AGBL1|0.082073978|54.74%
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 2632_s12 15 rs752270
dbSNP Clinvar
87099537 100.0 T C PASS 1/1 63 None None None 0.75320 0.75320 0.30377 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs9788743
dbSNP Clinvar
87097468 100.0 T C PASS 1/1 72 None None None 0.57209 0.57210 None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs557978126,rs397748718
dbSNP Clinvar
86768264 67.0 C CT R5x9 0/1 24 None None None None None None None None None AGBL1|0.082073978|54.74%
View 2632_s12 15 rs6494573
dbSNP Clinvar
66735551 100.0 C T PASS 1/1 17 None None None 0.85523 0.85520 None None None None None None MAP2K1|0.804119419|5.71%
View 2632_s12 15 rs16949924
dbSNP Clinvar
66727597 100.0 G C PASS 1/1 24 None None None 0.27077 0.27080 0.27315 None None None None None None MAP2K1|0.804119419|5.71%
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