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rs61750225

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CGCCCC;CGCCCC) 0 common in clinvar
Make rs61750225(CGCCCC;GGCCG)
Make rs61750225(GGCCG;GGCCG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031075
GeneMECP2
is asnp
is mentioned by
dbSNPrs61750225
dbSNP (classic)rs61750225
ClinGenrs61750225
ebirs61750225
HLIrs61750225
Exacrs61750225
Gnomadrs61750225
Varsomers61750225
LitVarrs61750225
Maprs61750225
PheGenIrs61750225
Biobankrs61750225
1000 genomesrs61750225
hgdprs61750225
ensemblrs61750225
geneviewrs61750225
scholarrs61750225
googlers61750225
pharmgkbrs61750225
gwascentralrs61750225
openSNPrs61750225
23andMers61750225
SNPshotrs61750225
SNPdbers61750225
MSV3drs61750225
GWAS Ctlgrs61750225
Max Magnitude0
ClinVar
Risk rs61750225(GGCCG;GGCCG)
Alt rs61750225(GGCCG;GGCCG)
Reference Rs61750225(CGCCCC;CGCCCC)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296526_153296531delGGGGCGinsCGGCC
CLNSRC
CLNACC RCV000133219.2,