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: rs776857280
rs776857280
GALC
2 0.925 0.120 14 87945599 missense variant C/G snv 0.010 1.000 1 2017 2017