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: rs80357086
rs80357086
BRCA1
0.851 0.200 17 43106480 stop gained A/G;T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.710 1.000 10 1995 2019
dbSNP: rs80357086
rs80357086
BRCA1
0.851 0.200 17 43106480 stop gained A/G;T snv
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 5 1995 2016
dbSNP: rs80357086
rs80357086
BRCA1
0.851 0.200 17 43106480 stop gained A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1995 2015
dbSNP: rs80357086
rs80357086
BRCA1
0.851 0.200 17 43106480 stop gained A/G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0