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rs61749743

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61749743(-;-)
Make rs61749743(-;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031118
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749743
dbSNP (classic)rs61749743
ClinGenrs61749743
ebirs61749743
HLIrs61749743
Exacrs61749743
Gnomadrs61749743
Varsomers61749743
LitVarrs61749743
Maprs61749743
PheGenIrs61749743
Biobankrs61749743
1000 genomesrs61749743
hgdprs61749743
ensemblrs61749743
geneviewrs61749743
scholarrs61749743
googlers61749743
pharmgkbrs61749743
gwascentralrs61749743
openSNPrs61749743
23andMers61749743
SNPshotrs61749743
SNPdbers61749743
MSV3drs61749743
GWAS Ctlgrs61749743
Max Magnitude0
ClinVar
Risk rs61749743(-;-)
Alt rs61749743(-;-)
Reference Rs61749743(G;G)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296569delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000012620.25,