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rs267608434

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs267608434(-;-)
Make rs267608434(-;CC)
ReferenceGRCh38 38.1/142
ChromosomeX
Position154032416
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608434
dbSNP (classic)rs267608434
ClinGenrs267608434
ebirs267608434
HLIrs267608434
Exacrs267608434
Gnomadrs267608434
Varsomers267608434
LitVarrs267608434
Maprs267608434
PheGenIrs267608434
Biobankrs267608434
1000 genomesrs267608434
hgdprs267608434
ensemblrs267608434
geneviewrs267608434
scholarrs267608434
googlers267608434
pharmgkbrs267608434
gwascentralrs267608434
openSNPrs267608434
23andMers267608434
SNPshotrs267608434
SNPdbers267608434
MSV3drs267608434
GWAS Ctlgrs267608434
Max Magnitude0
ClinVar
Risk rs267608434(-;-)
Alt rs267608434(-;-)
Reference Rs267608434(CC;CC)
Significance Pathogenic
Disease Rett syndrome Angelman syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome Angelman syndrome
Reversed 1
HGVS NC_000023.10:g.153297867_153297868delGG
CLNSRC OMIM Allelic Variant
CLNACC RCV000012589.16, RCV000133026.2,