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rs61748393

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61748393(-;-)
Make rs61748393(-;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031417
GeneMECP2
is asnp
is mentioned by
dbSNPrs61748393
ebirs61748393
HLIrs61748393
Exacrs61748393
Varsomers61748393
Maprs61748393
PheGenIrs61748393
hapmaprs61748393
1000 genomesrs61748393
hgdprs61748393
ensemblrs61748393
gopubmedrs61748393
geneviewrs61748393
scholarrs61748393
googlers61748393
pharmgkbrs61748393
gwascentralrs61748393
openSNPrs61748393
23andMers61748393
23andMe allrs61748393
SNP Nexus

SNPshotrs61748393
SNPdbers61748393
MSV3drs61748393
GWAS Ctlgrs61748393
Max Magnitude0
ClinVar
Risk rs61748393(;)
Alt rs61748393(;)
Reference rs61748393(G;G)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296868delC
CLNSRC
CLNACC RCV000133099.2,