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: rs56335340
rs56335340
BRCA2
1.000 0.080 13 32357883 missense variant C/T snv 4.4E-05 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs886040557
rs886040557
BRCA2
0.882 0.240 13 32339317 frameshift variant T/- delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs80359596
rs80359596
BRCA2
0.827 0.240 13 32340817 frameshift variant TCTC/-;TC;TCTCTC delins
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0