rs61752992, MECP2

N. diseases: 9
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.
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 1.000 19 1993 2016
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 1.000 5 2007 2012
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
8 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 0
Loss of ability to walk
CUI: C1849097
Disease: Loss of ability to walk
11 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 0
Lubs X-linked mental retardation syndrome
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
8 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 0
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
27 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 0
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
368 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 0