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: rs80357575
rs80357575
BRCA1
0.925 0.200 17 43092202 frameshift variant TTTTT/-;T;TT;TTTT;TTTTTT;TTTTTTT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1996 2017