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: rs80338707
rs80338707
PMM2 ; LOC100130283
4 0.925 0.080 16 8847775 missense variant G/A;C snv 6.8E-05; 4.0E-06 0.010 1.000 1 2001 2001