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: rs80356860
rs80356860
BRCA1
0.882 0.200 17 43063909 missense variant C/G;T snv 4.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 2000 2016
dbSNP: rs80356860
rs80356860
BRCA1
0.882 0.200 17 43063909 missense variant C/G;T snv 4.8E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 16 2000 2016
dbSNP: rs80356860
rs80356860
BRCA1
0.882 0.200 17 43063909 missense variant C/G;T snv 4.8E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2012 2012