Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80357701
rs80357701
BRCA1
0.925 0.200 17 43092197 frameshift variant GCTT/- delins
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0