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rs61751445

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61751445(C;T)
Make rs61751445(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154030896
GeneMECP2
is asnp
is mentioned by
dbSNPrs61751445
ebirs61751445
HLIrs61751445
Exacrs61751445
Varsomers61751445
Maprs61751445
PheGenIrs61751445
hapmaprs61751445
1000 genomesrs61751445
hgdprs61751445
ensemblrs61751445
gopubmedrs61751445
geneviewrs61751445
scholarrs61751445
googlers61751445
pharmgkbrs61751445
gwascentralrs61751445
openSNPrs61751445
23andMers61751445
23andMe allrs61751445
SNP Nexus

SNPshotrs61751445
SNPdbers61751445
MSV3drs61751445
GWAS Ctlgrs61751445
Max Magnitude0
ClinVar
Risk rs61751445(T;T)
Alt rs61751445(T;T)
Reference rs61751445(C;C)
Significance Probable-Pathogenic
Disease Rett syndrome Mental retardation
Variation info
Gene MECP2
CLNDBN Rett syndrome Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153296347G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000030168.3, RCV000133294.2,



[PMID 16672765] Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome.