rs80359130, BRCA2

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
37 0.827 0.200 13 32376769 missense variant C/A;G;T snv 8.0E-06 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.827 0.200 13 32376769 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2003 2003
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.827 0.200 13 32376769 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2003 2003
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
194 0.827 0.200 13 32376769 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2003 2003
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.827 0.200 13 32376769 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2003 2003