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rs267608463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608463(G;T)
Make rs267608463(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154032206
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608463
dbSNP (classic)rs267608463
ClinGenrs267608463
ebirs267608463
HLIrs267608463
Exacrs267608463
Gnomadrs267608463
Varsomers267608463
LitVarrs267608463
Maprs267608463
PheGenIrs267608463
Biobankrs267608463
1000 genomesrs267608463
hgdprs267608463
ensemblrs267608463
geneviewrs267608463
scholarrs267608463
googlers267608463
pharmgkbrs267608463
gwascentralrs267608463
openSNPrs267608463
23andMers267608463
SNPshotrs267608463
SNPdbers267608463
MSV3drs267608463
GWAS Ctlgrs267608463
Max Magnitude0
ClinVar
Risk rs267608463(A;A) rs267608463(T;T)
Alt rs267608463(A;A) rs267608463(T;T)
Reference Rs267608463(G;G)
Significance Pathogenic
Disease not provided Rett syndrome
Variation info
Gene MECP2
CLNDBN not provided Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153297657C>A; NC_000023.10:g.153297657C>T
CLNSRC
CLNACC RCV000144100.1, RCV000170192.1, RCV000144099.1, RCV000170191.1,