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rs61751439

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61751439(C;G)
Make rs61751439(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154030919
GeneMECP2
is asnp
is mentioned by
dbSNPrs61751439
dbSNP (classic)rs61751439
ClinGenrs61751439
ebirs61751439
HLIrs61751439
Exacrs61751439
Gnomadrs61751439
Varsomers61751439
LitVarrs61751439
Maprs61751439
PheGenIrs61751439
Biobankrs61751439
1000 genomesrs61751439
hgdprs61751439
ensemblrs61751439
geneviewrs61751439
scholarrs61751439
googlers61751439
pharmgkbrs61751439
gwascentralrs61751439
openSNPrs61751439
23andMers61751439
SNPshotrs61751439
SNPdbers61751439
MSV3drs61751439
GWAS Ctlgrs61751439
Max Magnitude0
ClinVar
Risk rs61751439(G;G)
Alt rs61751439(G;G)
Reference Rs61751439(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.153296370G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000030167.1, RCV000133285.2,



[PMID 15173251OA-icon.png] Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases.