rs111033806, GALT

N. diseases: 4
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 0.160 9 34649523 stop gained G/A;T snv 0.710 1.000 1 1999 1999
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.882 0.160 9 34649523 stop gained G/A;T snv 0.700 0
Primary hypogonadism
CUI: C0948896
Disease: Primary hypogonadism
6 0.882 0.160 9 34649523 stop gained G/A;T snv 0.700 0
Galactosemias
CUI: C0016952
Disease: Galactosemias
16 0.882 0.160 9 34649523 stop gained G/A;T snv 0.010 1.000 1 1999 1999