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: rs28936415
rs28936415
PMM2
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 1.000 12 1997 2017
dbSNP: rs760265100
rs760265100
PMM2 ; TMEM186
1 16 8797935 missense variant C/G snv 1.7E-05 1.4E-05 0.700 1.000 12 1997 2017
dbSNP: rs80338708
rs80338708
PMM2 ; LOC100130283
3 1.000 0.080 16 8847794 missense variant C/G;T snv 1.3E-04; 4.4E-05 0.700 1.000 12 1997 2017