Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80357268
rs80357268
BRCA1
3 0.827 0.200 17 43045773 missense variant C/T snv 4.0E-06 0.700 1.000 18 1998 2016