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rs267608483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs267608483(-;-)
Make rs267608483(-;TC)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031357
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608483
dbSNP (classic)rs267608483
ClinGenrs267608483
ebirs267608483
HLIrs267608483
Exacrs267608483
Gnomadrs267608483
Varsomers267608483
LitVarrs267608483
Maprs267608483
PheGenIrs267608483
Biobankrs267608483
1000 genomesrs267608483
hgdprs267608483
ensemblrs267608483
geneviewrs267608483
scholarrs267608483
googlers267608483
pharmgkbrs267608483
gwascentralrs267608483
openSNPrs267608483
23andMers267608483
SNPshotrs267608483
SNPdbers267608483
MSV3drs267608483
GWAS Ctlgrs267608483
Max Magnitude0
ClinVar
Risk rs267608483(-;-)
Alt rs267608483(-;-)
Reference Rs267608483(TC;TC)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296808_153296809delGA
CLNSRC
CLNACC RCV000133125.2,