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: rs267608153
rs267608153
PMS2
0.925 0.160 7 5995534 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.700 1.000 6 2008 2016
dbSNP: rs267608153
rs267608153
PMS2
0.925 0.160 7 5995534 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2008 2015
dbSNP: rs267608153
rs267608153
PMS2
0.925 0.160 7 5995534 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.700 1.000 4 2008 2016
dbSNP: rs267608153
rs267608153
PMS2
0.925 0.160 7 5995534 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C1838333
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 		0.700 1.000 4 2008 2016