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rs62701461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTAC;GTAC) 0 common in clinvar
Make rs62701461(-;-)
Make rs62701461(-;GTAC)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154030927
GeneMECP2
is asnp
is mentioned by
dbSNPrs62701461
dbSNP (classic)rs62701461
ClinGenrs62701461
ebirs62701461
HLIrs62701461
Exacrs62701461
Gnomadrs62701461
Varsomers62701461
LitVarrs62701461
Maprs62701461
PheGenIrs62701461
Biobankrs62701461
1000 genomesrs62701461
hgdprs62701461
ensemblrs62701461
geneviewrs62701461
scholarrs62701461
googlers62701461
pharmgkbrs62701461
gwascentralrs62701461
openSNPrs62701461
23andMers62701461
SNPshotrs62701461
SNPdbers62701461
MSV3drs62701461
GWAS Ctlgrs62701461
Max Magnitude0
ClinVar
Risk rs62701461(-;-)
Alt rs62701461(-;-)
Reference Rs62701461(GTAC;GTAC)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296378_153296381delGTAC
CLNSRC
CLNACC RCV000133271.2,