Source: ALL

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: rs81002796
rs81002796
BRCA2
0.925 0.200 13 32316528 splice donor variant G/A;C;T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 7 2003 2019
dbSNP: rs81002796
rs81002796
BRCA2
0.925 0.200 13 32316528 splice donor variant G/A;C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2003 2015
dbSNP: rs81002796
rs81002796
BRCA2
0.925 0.200 13 32316528 splice donor variant G/A;C;T snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 4 2006 2019
dbSNP: rs81002796
rs81002796
BRCA2
0.925 0.200 13 32316528 splice donor variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016