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rs179363900

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs179363900(C;G)
Make rs179363900(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031374
GeneMECP2
is asnp
is mentioned by
dbSNPrs179363900
dbSNP (classic)rs179363900
ClinGenrs179363900
ebirs179363900
HLIrs179363900
Exacrs179363900
Gnomadrs179363900
Varsomers179363900
LitVarrs179363900
Maprs179363900
PheGenIrs179363900
Biobankrs179363900
1000 genomesrs179363900
hgdprs179363900
ensemblrs179363900
geneviewrs179363900
scholarrs179363900
googlers179363900
pharmgkbrs179363900
gwascentralrs179363900
openSNPrs179363900
23andMers179363900
SNPshotrs179363900
SNPdbers179363900
MSV3drs179363900
GWAS Ctlgrs179363900
Max Magnitude0
ClinVar
Risk rs179363900(G;G)
Alt rs179363900(G;G)
Reference Rs179363900(C;C)
Significance Pathogenic
Disease Rett syndrome Mental retardation not provided
Variation info
Gene MECP2
CLNDBN Rett syndrome, zappella variant Mental retardation, X-linked, syndromic 13 not provided
Reversed 1
HGVS NC_000023.10:g.153296825G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012618.24, RCV000133115.2, RCV000492792.1,