rs267608434, MECP2

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.
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
135 0.925 0.080 X 154032416 frameshift variant GG/- delins 0.700 0
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.925 0.080 X 154032416 frameshift variant GG/- delins 0.700 0