Gene: PMS2 ×
Source: BEFREE ×
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: rs200640585
rs200640585
PMS2
5 0.790 0.280 7 5992018 stop gained G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs587778617
rs587778617
PMS2
5 0.807 0.240 7 5987504 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019