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: rs374635469
rs374635469
GALC
2 0.925 0.120 14 87986543 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs557464603
rs557464603
GALC
2 0.925 0.120 14 87945604 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 1997 1997