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: rs35690297
rs35690297
PMS2
5 1.000 0.120 7 6002584 start lost T/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs587779333
rs587779333
PMS2 ; AIMP2
10 0.851 0.200 7 6009019 start lost T/A;C;G snv 4.0E-06; 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs786202567
rs786202567
PMS2
5 1.000 0.120 7 5992027 missense variant T/A;C snv 4.0E-06 1.4E-05 0.010 1.000 1 2009 2009