rs179363900, MECP2

N. diseases: 6
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 0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05 0.710 1.000 1 2009 2009
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
8 0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05 0.700 0
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
43 0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05 0.700 0
Lubs X-linked mental retardation syndrome
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
8 0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05 0.700 0
Mental Retardation, X-Linked, Syndromic 13
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
27 0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05 0.700 0
Rett Syndrome, Zappella Variant
CUI: C2677682
Disease: Rett Syndrome, Zappella Variant
2 0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05 0.700 0