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: rs111033773
rs111033773
GALT
3 0.882 0.200 9 34649032 missense variant G/T snv 1.4E-04 1.7E-04 0.010 1.000 1 2005 2005
dbSNP: rs75391579
rs75391579
GALT
5 0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03 0.010 1.000 1 2005 2005