rs104894938, SLC16A2

N. diseases: 1
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 1.000 0.120 X 74531414 missense variant T/C;G snv 0.800 1.000 9 2004 2017