rs63749748, MECP2

N. diseases: 3
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.
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.882 0.080 X 154030628 splice acceptor variant TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- delins 0.700 1.000 6 2000 2012
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.882 0.080 X 154030628 splice acceptor variant TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- delins 0.700 1.000 6 2000 2012
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
135 0.882 0.080 X 154030628 splice acceptor variant TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- delins 0.700 0