Source: UNIPROT

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: rs137853007
rs137853007
CHEK2
0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		0.800 1.000 1 2001 2001
dbSNP: rs137853007
rs137853007
CHEK2
0.790 0.240 22 28725254 missense variant G/A;T snv 5.2E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.700 0