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: rs80358683
rs80358683
BRCA2
0.851 0.120 13 32338880 stop gained C/T snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.700 1.000 1 2004 2004
dbSNP: rs80358683
rs80358683
BRCA2
0.851 0.120 13 32338880 stop gained C/T snv
CUI: C0025202
Disease: melanoma
melanoma 		0.700 0
dbSNP: rs80358683
rs80358683
BRCA2
0.851 0.120 13 32338880 stop gained C/T snv
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.700 0
dbSNP: rs80358683
rs80358683
BRCA2
0.851 0.120 13 32338880 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs80358683
rs80358683
BRCA2
0.851 0.120 13 32338880 stop gained C/T snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 0