rs179363901, MECP2

N. diseases: 4
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.
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.882 0.120 X 154097661 missense variant G/A snv 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.882 0.120 X 154097661 missense variant G/A snv 0.010 1.000 1 2009 2009
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 X 154097661 missense variant G/A snv 0.010 1.000 1 2009 2009
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
348 0.882 0.120 X 154097661 missense variant G/A snv 0.010 1.000 1 2009 2009