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: rs80357718
rs80357718
BRCA1
3 0.925 0.200 17 43071198 frameshift variant AAGAG/- delins 0.700 0