rs75391579, GALT

N. diseases: 5
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 0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03 0.900 0.962 26 1991 2018
Galactosemias
CUI: C0016952
Disease: Galactosemias
16 0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03 0.070 0.857 7 1995 2018
Apraxia, Developmental Verbal
CUI: C0750927
Disease: Apraxia, Developmental Verbal
21 0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03 0.010 1.000 1 2005 2005
Endometriosis
CUI: C0014175
Disease: Endometriosis
274 0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03 0.010 1 2006 2006
Idiopathic premature ovarian failure
CUI: C4303510
Disease: Idiopathic premature ovarian failure
2 0.827 0.280 9 34648170 missense variant A/G snv 1.4E-03 1.9E-03 0.010 1.000 1 2005 2005