rs397508838, BRCA1

N. diseases: 4
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 17 43094416 stop gained C/T snv 7.0E-06 0.700 1.000 2 1997 2006
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.925 17 43094416 stop gained C/T snv 7.0E-06 0.700 0
FANCONI ANEMIA, COMPLEMENTATION GROUP S
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
28 0.925 17 43094416 stop gained C/T snv 7.0E-06 0.700 0
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.925 17 43094416 stop gained C/T snv 7.0E-06 0.010 1.000 1 2005 2005