Gene: PMM2 ×
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: rs148032587
rs148032587
PMM2
2 0.925 0.080 16 8811173 missense variant G/A snv 1.6E-04 1.3E-04 0.700 1.000 12 1997 2017
dbSNP: rs80338709
rs80338709
PMM2 ; LOC100130283
2 0.925 0.080 16 8847806 missense variant G/C snv 6.0E-05 2.7E-04 0.700 1.000 12 1997 2017