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: rs55851803
rs55851803
BRCA1
3 0.925 0.200 17 43106477 splice donor variant C/G;T snv 0.700 1.000 19 1994 2014