rs132630328, GK

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.
Deficiency of glycerol kinase
CUI: C0268418
Disease: Deficiency of glycerol kinase
5 0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 0.710 1.000 1 1996 1996
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 0.010 1.000 1 1996 1996
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.925 0.200 X 30720721 missense variant A/G;T snv 5.4E-06 0.010 1.000 1 1996 1996