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rs267608590

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs267608590(CC;T)
Make rs267608590(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154030668
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608590
dbSNP (classic)rs267608590
ClinGenrs267608590
ebirs267608590
HLIrs267608590
Exacrs267608590
Gnomadrs267608590
Varsomers267608590
LitVarrs267608590
Maprs267608590
PheGenIrs267608590
Biobankrs267608590
1000 genomesrs267608590
hgdprs267608590
ensemblrs267608590
geneviewrs267608590
scholarrs267608590
googlers267608590
pharmgkbrs267608590
gwascentralrs267608590
openSNPrs267608590
23andMers267608590
SNPshotrs267608590
SNPdbers267608590
MSV3drs267608590
GWAS Ctlgrs267608590
Max Magnitude0
ClinVar
Risk rs267608590(T;T)
Alt rs267608590(T;T)
Reference Rs267608590(CC;CC)
Significance Pathogenic
Disease Rett syndrome Mental retardation
Variation info
Gene MECP2
CLNDBN Rett syndrome Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153296119_153296120delGGinsA
CLNSRC
CLNACC RCV000132904.2, RCV000170101.1,