BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80356892
rs80356892
1.000 0.080 17 43092965 missense variant A/G snv 1.7E-03 4.5E-04
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs11655505
rs11655505
0.776 0.160 17 43126360 intron variant G/A snv 0.31
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs730881500
rs730881500
0.882 0.080 17 43045769 missense variant G/A snv 8.0E-06
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008