Source: BEFREE

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: rs1060503118
rs1060503118
PMS2
0.925 0.080 7 5987422 missense variant C/T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs1060503118
rs1060503118
PMS2
0.925 0.080 7 5987422 missense variant C/T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2015 2015