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rs267608522

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267608522(-;-)
Make rs267608522(-;CC)
Make rs267608522(CC;CC)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031074
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608522
ebirs267608522
HLIrs267608522
Exacrs267608522
Varsomers267608522
Maprs267608522
PheGenIrs267608522
hapmaprs267608522
1000 genomesrs267608522
hgdprs267608522
ensemblrs267608522
gopubmedrs267608522
geneviewrs267608522
scholarrs267608522
googlers267608522
pharmgkbrs267608522
gwascentralrs267608522
openSNPrs267608522
23andMers267608522
23andMe allrs267608522
SNP Nexus

SNPshotrs267608522
SNPdbers267608522
MSV3drs267608522
GWAS Ctlgrs267608522
Max Magnitude0
ClinVar
Risk rs267608522(CCG,CG;CCG,CG)
Alt rs267608522(CCG,CG;CCG,CG)
Reference rs267608522(G;G)
Significance Pathogenic
Disease not provided Rett syndrome Severe neonatal-onset encephalopathy with microcephaly
Variation info
Gene MECP2
CLNDBN not provided Rett syndrome Severe neonatal-onset encephalopathy with microcephaly
Reversed 1
HGVS NC_000023.10:g.153296526_153296527dupGG; NC_000023.10:g.153296526dupG
CLNSRC
CLNACC RCV000133226.2, RCV000169937.2, RCV000133229.2, RCV000144424.1, RCV000170112.1,