Source: CLINVAR

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: rs80359550
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 16 1996 2013
dbSNP: rs80359550
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 16 1996 2016
dbSNP: rs80359550
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 10 2009 2016
dbSNP: rs80359550
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs80359550
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.700 0
dbSNP: rs80359550
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs80359550
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs80359550
rs80359550
BRCA2
0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04
CUI: C3150546
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 		0.700 0