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: rs121909730
rs121909730
GLUD1
4 0.882 0.040 10 87053380 missense variant G/A snv 0.010 1.000 1 2014 2014