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: rs763615602
rs763615602
DGUOK
3 0.882 2 73927047 missense variant A/G snv 2.5E-05 3.5E-05 0.800 1.000 2 2007 2016
dbSNP: rs748597500
rs748597500
DGUOK
3 0.882 2 73950732 splice region variant G/A snv 4.0E-05 4.9E-05 0.700 0