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: rs41293465
rs41293465
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
Hereditary Breast and Ovarian Cancer Syndrome
0.700 1.000 26 1996 2016
dbSNP: rs41293465
rs41293465
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 19 1996 2017
dbSNP: rs41293465
rs41293465
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 1.000 13 1996 2015
dbSNP: rs41293465
rs41293465
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.700 1.000 1 2016 2016
dbSNP: rs41293465
rs41293465
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 0
dbSNP: rs41293465
rs41293465
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 0