rs122460151, ARSL

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.
Chondrodysplasia Punctata
CUI: C0008445
Disease: Chondrodysplasia Punctata
1 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1 1999 1999
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999