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: rs267608094
rs267608094
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
Hereditary Nonpolyposis Colorectal Cancer
0.700 1.000 11 2005 2016
dbSNP: rs267608094
rs267608094
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
Hereditary Nonpolyposis Colorectal Neoplasms
0.700 1.000 10 2005 2016
dbSNP: rs267608094
rs267608094
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 9 2006 2016
dbSNP: rs267608094
rs267608094
0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5
0.700 1.000 3 2006 2011