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rs267608428

From SNPedia

Orientationminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs267608428(-;-)
Make rs267608428(-;AG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154032464
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608428
ebirs267608428
HLIrs267608428
Exacrs267608428
Varsomers267608428
Maprs267608428
PheGenIrs267608428
hapmaprs267608428
1000 genomesrs267608428
hgdprs267608428
ensemblrs267608428
gopubmedrs267608428
geneviewrs267608428
scholarrs267608428
googlers267608428
pharmgkbrs267608428
gwascentralrs267608428
openSNPrs267608428
23andMers267608428
23andMe allrs267608428
SNP Nexus

SNPshotrs267608428
SNPdbers267608428
MSV3drs267608428
GWAS Ctlgrs267608428
Max Magnitude0
ClinVar
Risk rs267608428(;)
Alt rs267608428(;)
Reference rs267608428(AG;AG)
Significance Pathogenic
Disease Severe neonatal-onset encephalopathy with microcephaly Rett syndrome
Variation info
Gene MECP2
CLNDBN Severe neonatal-onset encephalopathy with microcephaly Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153297915_153297916delCT
CLNSRC
CLNACC RCV000132959.2, RCV000170105.1,