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: rs62625308
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 18 1994 2016
dbSNP: rs62625308
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 8 1997 2015
dbSNP: rs62625308
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1994 2017
dbSNP: rs62625308
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 1 2004 2004
dbSNP: rs62625308
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs62625308
rs62625308
BRCA1
0.851 0.200 17 43091924 stop gained G/A;C snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0