Source: CURATED

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: rs80358638
rs80358638
BRCA2
0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 14 2003 2017
dbSNP: rs80358638
rs80358638
BRCA2
0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2003 2017
dbSNP: rs80358638
rs80358638
BRCA2
0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 3 2003 2013
dbSNP: rs80358638
rs80358638
BRCA2
0.776 0.280 13 32338277 stop gained G/A;T snv 5.6E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0