Source: ALL
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: rs1555582520
rs1555582520
BRCA1
1 17 43076486 splice donor variant A/G snv 0.700 1.000 1 2004 2004