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rs267608464

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267608464(A;G)
Make rs267608464(G;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031452
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608464
dbSNP (classic)rs267608464
ClinGenrs267608464
ebirs267608464
HLIrs267608464
Exacrs267608464
Gnomadrs267608464
Varsomers267608464
LitVarrs267608464
Maprs267608464
PheGenIrs267608464
Biobankrs267608464
1000 genomesrs267608464
hgdprs267608464
ensemblrs267608464
geneviewrs267608464
scholarrs267608464
googlers267608464
pharmgkbrs267608464
gwascentralrs267608464
openSNPrs267608464
23andMers267608464
SNPshotrs267608464
SNPdbers267608464
MSV3drs267608464
GWAS Ctlgrs267608464
Max Magnitude0
ClinVar
Risk rs267608464(C;C) rs267608464(G;G) rs267608464(T;T)
Alt rs267608464(C;C) rs267608464(G;G) rs267608464(T;T)
Reference Rs267608464(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.153296903T>A; NC_000023.10:g.153296903T>C; NC_000023.10:g.153296903T>G
CLNSRC
CLNACC RCV000144114.1, RCV000170200.1, RCV000144113.1, RCV000170199.1, RCV000144112.1, RCV000170198.1,