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: rs200378205
rs200378205
GALC
1 1.000 0.120 14 87945631 missense variant C/G;T snv 5.2E-05 4.2E-05 0.700 1.000 5 1999 2018