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: rs80358061
rs80358061
BRCA1
0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 15 1994 2015
dbSNP: rs80358061
rs80358061
BRCA1
0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 1994 2013
dbSNP: rs80358061
rs80358061
BRCA1
0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80358061
rs80358061
BRCA1
0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0