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rs267608520

From SNPedia

Orientationminus
Geno Mag Summary
(ATGGTGAT;ATGGTGAT) 0 common in clinvar
Make rs267608520(ATGGTGAT;GTG)
Make rs267608520(GTG;GTG)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031085
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608520
ebirs267608520
HLIrs267608520
Exacrs267608520
Varsomers267608520
Maprs267608520
PheGenIrs267608520
hapmaprs267608520
1000 genomesrs267608520
hgdprs267608520
ensemblrs267608520
gopubmedrs267608520
geneviewrs267608520
scholarrs267608520
googlers267608520
pharmgkbrs267608520
gwascentralrs267608520
openSNPrs267608520
23andMers267608520
23andMe allrs267608520
SNP Nexus

SNPshotrs267608520
SNPdbers267608520
MSV3drs267608520
GWAS Ctlgrs267608520
Max Magnitude0
ClinVar
Risk rs267608520(GTG;GTG)
Alt rs267608520(GTG;GTG)
Reference rs267608520(ATGGTGAT;ATGGTGAT)
Significance Pathogenic
Disease not provided Rett syndrome
Variation info
Gene MECP2
CLNDBN not provided Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296536_153296543delATCACCATinsCAC
CLNSRC
CLNACC RCV000133215.2, RCV000194193.1,