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: rs2020912
rs2020912
0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.710 1.000 12 1999 2012
dbSNP: rs2020912
rs2020912
0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 1.000 12 1997 2017
dbSNP: rs2020912
rs2020912
0.807 0.480 2 47800616 missense variant T/C;G snv 5.1E-03
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.700 1.000 2 2000 2004