+ 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 1

Genes:
AGBL1,

+ Genes associated with diseases 1

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: 6
Number of Genes: 1

Export to: CSV
  • Page 1 of 1

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 rs1006030
dbSNP Clinvar 		87531281 100.0 A C PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.19396 None None None None None None AGBL1|0.082073978|54.74%
View 12107_s6 15 rs4362360
dbSNP Clinvar 		86940622 100.0 T C PASS 1/1 80 SYNONYMOUS_CODING LOW None 0.74421 0.74420 0.39279 None None None None None None AGBL1|0.082073978|54.74%
View 12107_s6 15 rs11858435
dbSNP Clinvar 		86814866 100.0 A G PASS 1/1 47 SYNONYMOUS_CODING LOW None 0.68211 0.68210 0.26808 None None None None None None AGBL1|0.082073978|54.74%
View 12107_s6 15 rs10520618
dbSNP Clinvar 		86807761 100.0 A G PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.50539 0.50540 0.47409 None None None None None None AGBL1|0.082073978|54.74%
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%
  • Page 1 of 1