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: rs80359065
rs80359065
BRCA2
0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.730 1.000 3 2003 2017
dbSNP: rs80359065
rs80359065
BRCA2
0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2003 2017
dbSNP: rs80359065
rs80359065
BRCA2
0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		0.010 1.000 1 2010 2010
dbSNP: rs80359065
rs80359065
BRCA2
0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04
CUI: C3469521
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) 		0.010 1.000 1 2003 2003
dbSNP: rs80359065
rs80359065
BRCA2
0.827 0.240 13 32363389 missense variant G/A;T snv 7.9E-04
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia 		0.010 1.000 1 2003 2003