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: rs80359306
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 23 1997 2014
dbSNP: rs80359306
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 1996 2017
dbSNP: rs80359306
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 7 1996 2012
dbSNP: rs80359306
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		0.700 0
dbSNP: rs80359306
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.700 0
dbSNP: rs80359306
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0