rs121918521, ATP6AP2

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.
Mental Retardation, X-Linked
CUI: C1136249
Disease: Mental Retardation, X-Linked
13 0.925 0.080 X 40597269 missense variant C/T snv 0.010 1.000 1 2013 2013
Mental Retardation, X-Linked, with Epilepsy
2 0.925 0.080 X 40597269 missense variant C/T snv 0.700 0