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rs267608469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267608469(C;T)
Make rs267608469(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031446
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608469
dbSNP (classic)rs267608469
ClinGenrs267608469
ebirs267608469
HLIrs267608469
Exacrs267608469
Gnomadrs267608469
Varsomers267608469
LitVarrs267608469
Maprs267608469
PheGenIrs267608469
Biobankrs267608469
1000 genomesrs267608469
hgdprs267608469
ensemblrs267608469
geneviewrs267608469
scholarrs267608469
googlers267608469
pharmgkbrs267608469
gwascentralrs267608469
openSNPrs267608469
23andMers267608469
SNPshotrs267608469
SNPdbers267608469
MSV3drs267608469
GWAS Ctlgrs267608469
Max Magnitude0
ClinVar
Risk rs267608469(G;G) rs267608469(T;T)
Alt rs267608469(G;G) rs267608469(T;T)
Reference Rs267608469(C;C)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296897G>A
CLNSRC
CLNACC RCV000133086.2,