rs122455132, SLC16A2

N. diseases: 2
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.
Allan-Herndon-Dudley syndrome (AHDS)
CUI: C0795889
Disease: Allan-Herndon-Dudley syndrome (AHDS)
29 0.925 0.200 X 74529232 missense variant T/C snv 0.800 1.000 9 2004 2017
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.925 0.200 X 74529232 missense variant T/C snv 0.700 0