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rs61751364

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGATC;CGATC) 0 common in clinvar
Make rs61751364(-;-)
Make rs61751364(-;CGATC)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154030944
GeneMECP2
is asnp
is mentioned by
dbSNPrs61751364
dbSNP (classic)rs61751364
ClinGenrs61751364
ebirs61751364
HLIrs61751364
Exacrs61751364
Gnomadrs61751364
Varsomers61751364
LitVarrs61751364
Maprs61751364
PheGenIrs61751364
Biobankrs61751364
1000 genomesrs61751364
hgdprs61751364
ensemblrs61751364
geneviewrs61751364
scholarrs61751364
googlers61751364
pharmgkbrs61751364
gwascentralrs61751364
openSNPrs61751364
23andMers61751364
SNPshotrs61751364
SNPdbers61751364
MSV3drs61751364
GWAS Ctlgrs61751364
Max Magnitude0
ClinVar
Risk rs61751364(-;-)
Alt rs61751364(-;-)
Reference Rs61751364(CGATC;CGATC)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296395_153296399delGATCG
CLNSRC
CLNACC RCV000133265.2,