Gene: PMS2 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060503115
rs1060503115
PMS2
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs869312801
rs869312801
PMS2
4 0.882 0.160 7 5987062 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013