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

ITGA3,
ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)

Genes at Clinical Genomics Database

ITGA3,
ITGA3 Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV
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ITGA3

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 sp16_961 17 rs2269772
dbSNP Clinvar
48149386 94.7498 C T PASS 0/1 40 SYNONYMOUS_CODING LOW None 0.24661 0.24660 0.17184 None None None None None None ITGA3|0.328975626|25.55%
View sp16_961 17 rs2285524
dbSNP Clinvar
48151353 99.2626 T C PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.30531 0.30530 0.21767 None None None None None None ITGA3|0.328975626|25.55%
View sp16_961 17 rs2230392
dbSNP Clinvar
48155425 174.911 G A PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.15455 0.15460 0.06635 0.40 0.00 None None None None None None ITGA3|0.328975626|25.55%
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