Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs75391579
rs75391579
GALT
0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		0.900 0.962 15 1991 2018