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: rs80359401
rs80359401
BRCA2
0.882 0.200 13 32338070 frameshift variant A/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2004 2007
dbSNP: rs80359401
rs80359401
BRCA2
0.882 0.200 13 32338070 frameshift variant A/- delins
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 2 2004 2007
dbSNP: rs80359401
rs80359401
BRCA2
0.882 0.200 13 32338070 frameshift variant A/- delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 2 2004 2007
dbSNP: rs80359401
rs80359401
BRCA2
0.882 0.200 13 32338070 frameshift variant A/- delins
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0