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rs193922678

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922678(A;A)
Make rs193922678(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154030387
GeneMECP2
is asnp
is mentioned by
dbSNPrs193922678
ebirs193922678
HLIrs193922678
Exacrs193922678
Varsomers193922678
Maprs193922678
PheGenIrs193922678
hapmaprs193922678
1000 genomesrs193922678
hgdprs193922678
ensemblrs193922678
gopubmedrs193922678
geneviewrs193922678
scholarrs193922678
googlers193922678
pharmgkbrs193922678
gwascentralrs193922678
openSNPrs193922678
23andMers193922678
23andMe allrs193922678
SNP Nexus

SNPshotrs193922678
SNPdbers193922678
MSV3drs193922678
GWAS Ctlgrs193922678
Max Magnitude0
ClinVar
Risk rs193922678(A;A)
Alt rs193922678(A;A)
Reference rs193922678(G;G)
Significance Probable-Pathogenic
Disease Rett syndrome not specified
Variation info
Gene MECP2
CLNDBN Rett syndrome not specified
Reversed 1
HGVS NC_000023.10:g.153295838C>T
CLNSRC ClinVar GeneDx LabCorp
CLNACC RCV000030164.3, RCV000194612.3,


[PMID 19495527] MECP2 mutations in Malaysian Rett syndrome patients.