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rs267608412

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608412(A;G)
Make rs267608412(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154032559
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608412
dbSNP (classic)rs267608412
ClinGenrs267608412
ebirs267608412
HLIrs267608412
Exacrs267608412
Gnomadrs267608412
Varsomers267608412
LitVarrs267608412
Maprs267608412
PheGenIrs267608412
Biobankrs267608412
1000 genomesrs267608412
hgdprs267608412
ensemblrs267608412
geneviewrs267608412
scholarrs267608412
googlers267608412
pharmgkbrs267608412
gwascentralrs267608412
openSNPrs267608412
23andMers267608412
SNPshotrs267608412
SNPdbers267608412
MSV3drs267608412
GWAS Ctlgrs267608412
Max Magnitude0
ClinVar
Risk rs267608412(G;G)
Alt rs267608412(G;G)
Reference Rs267608412(A;A)
Significance Pathogenic
Disease not provided Rett syndrome
Variation info
Gene MECP2
CLNDBN not provided Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153298010T>C
CLNSRC
CLNACC RCV000144093.1, RCV000170180.1,