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: rs276174859
rs276174859
BRCA2
0.851 0.280 13 32339964 stop gained TC/AG mnv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 5 2002 2014
dbSNP: rs276174859
rs276174859
BRCA2
0.851 0.280 13 32339964 stop gained TC/AG mnv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2002 2014
dbSNP: rs276174859
rs276174859
BRCA2
0.851 0.280 13 32339964 stop gained TC/AG mnv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 3 2002 2014
dbSNP: rs276174859
rs276174859
BRCA2
0.851 0.280 13 32339964 stop gained TC/AG mnv
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.700 0
dbSNP: rs276174859
rs276174859
BRCA2
0.851 0.280 13 32339964 stop gained TC/AG mnv
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		0.700 0