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rs267608488

From SNPedia

Orientationminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
Make rs267608488(-;-)
Make rs267608488(-;GG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031339
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608488
ebirs267608488
HLIrs267608488
Exacrs267608488
Varsomers267608488
Maprs267608488
PheGenIrs267608488
hapmaprs267608488
1000 genomesrs267608488
hgdprs267608488
ensemblrs267608488
gopubmedrs267608488
geneviewrs267608488
scholarrs267608488
googlers267608488
pharmgkbrs267608488
gwascentralrs267608488
openSNPrs267608488
23andMers267608488
23andMe allrs267608488
SNP Nexus

SNPshotrs267608488
SNPdbers267608488
MSV3drs267608488
GWAS Ctlgrs267608488
Max Magnitude0
ClinVar
Risk rs267608488(;)
Alt rs267608488(;)
Reference rs267608488(GG;GG)
Significance Pathogenic
Disease Rett syndrome Severe neonatal-onset encephalopathy with microcephaly
Variation info
Gene MECP2
CLNDBN Rett syndrome Severe neonatal-onset encephalopathy with microcephaly
Reversed 1
HGVS NC_000023.10:g.153296790_153296791delCC
CLNSRC
CLNACC RCV000133140.2, RCV000170111.1,