Gene: BRCA1 ×
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: rs1799949
rs1799949
BRCA1
2 17 43093449 synonymous variant G/A snv 0.35 0.31 0.700 1.000 1 2015 2015
dbSNP: rs8176071
rs8176071
BRCA1 ; NBR2
1 17 43125988 intron variant -/GTT delins 0.31 0.700 1.000 1 2018 2018