rs111033773, GALT

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Classical galactosemia
CUI: C0268151
Disease: Classical galactosemia
233 0.882 0.200 9 34649032 missense variant G/T snv 1.4E-04 1.7E-04 0.840 1.000 29 1991 2016
Galactosemias
CUI: C0016952
Disease: Galactosemias
16 0.882 0.200 9 34649032 missense variant G/T snv 1.4E-04 1.7E-04 0.020 1.000 2 1997 1999
Idiopathic premature ovarian failure
CUI: C4303510
Disease: Idiopathic premature ovarian failure
2 0.882 0.200 9 34649032 missense variant G/T snv 1.4E-04 1.7E-04 0.010 1.000 1 2005 2005