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rs61749749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(AT;AT)
Make rs61749749(-;AT)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031091
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749749
dbSNP (classic)rs61749749
ClinGenrs61749749
ebirs61749749
HLIrs61749749
Exacrs61749749
Gnomadrs61749749
Varsomers61749749
LitVarrs61749749
Maprs61749749
PheGenIrs61749749
Biobankrs61749749
1000 genomesrs61749749
hgdprs61749749
ensemblrs61749749
geneviewrs61749749
scholarrs61749749
googlers61749749
pharmgkbrs61749749
gwascentralrs61749749
openSNPrs61749749
23andMers61749749
SNPshotrs61749749
SNPdbers61749749
MSV3drs61749749
GWAS Ctlgrs61749749
Max Magnitude0
ClinVar
Risk Rs61749749(AT;AT)
Alt Rs61749749(AT;AT)
Reference Rs61749749(-;-)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296542_153296543insAT
CLNSRC
CLNACC RCV000133214.2,