Source: UNIPROT

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: rs2070074
rs2070074
GALT
0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02
CUI: C0268151
Disease: Classical galactosemia
Classical galactosemia 		0.890 1.000 20 1991 2016