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rs104894864

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894864(G;T)
Make rs104894864(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154030465
GeneMECP2
is asnp
is mentioned by
dbSNPrs104894864
dbSNP (classic)rs104894864
ClinGenrs104894864
ebirs104894864
HLIrs104894864
Exacrs104894864
Gnomadrs104894864
Varsomers104894864
LitVarrs104894864
Maprs104894864
PheGenIrs104894864
Biobankrs104894864
1000 genomesrs104894864
hgdprs104894864
ensemblrs104894864
geneviewrs104894864
scholarrs104894864
googlers104894864
pharmgkbrs104894864
gwascentralrs104894864
openSNPrs104894864
23andMers104894864
SNPshotrs104894864
SNPdbers104894864
MSV3drs104894864
GWAS Ctlgrs104894864
Max Magnitude0
OMIM300005
Desc
Variant0026
Relatedalso
ClinVar
Risk rs104894864(T;T)
Alt rs104894864(T;T)
Reference Rs104894864(G;G)
Significance Pathogenic
Disease Rett syndrome not provided
Variation info
Gene MECP2
CLNDBN Rett syndrome not provided
Reversed 1
HGVS NC_000023.10:g.153295916C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012607.15, RCV000132997.1,