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: rs587782513
rs587782513
PMS2
2 0.925 0.080 7 5992023 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2015 2015