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rs267608475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267608475(A;A)
Make rs267608475(A;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031415
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608475
dbSNP (classic)rs267608475
ClinGenrs267608475
ebirs267608475
HLIrs267608475
Exacrs267608475
Gnomadrs267608475
Varsomers267608475
LitVarrs267608475
Maprs267608475
PheGenIrs267608475
Biobankrs267608475
1000 genomesrs267608475
hgdprs267608475
ensemblrs267608475
geneviewrs267608475
scholarrs267608475
googlers267608475
pharmgkbrs267608475
gwascentralrs267608475
openSNPrs267608475
23andMers267608475
SNPshotrs267608475
SNPdbers267608475
MSV3drs267608475
GWAS Ctlgrs267608475
Max Magnitude0
ClinVar
Risk rs267608475(A;A) rs267608475(C;C)
Alt rs267608475(A;A) rs267608475(C;C)
Reference Rs267608475(T;T)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296866A>G; NC_000023.10:g.153296866A>T
CLNSRC
CLNACC RCV000133101.2, RCV000133100.2,