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rs267608426

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGAA;AGAA) 0 common in clinvar
Make rs267608426(-;-)
Make rs267608426(-;AGAA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154032473
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608426
dbSNP (classic)rs267608426
ClinGenrs267608426
ebirs267608426
HLIrs267608426
Exacrs267608426
Gnomadrs267608426
Varsomers267608426
LitVarrs267608426
Maprs267608426
PheGenIrs267608426
Biobankrs267608426
1000 genomesrs267608426
hgdprs267608426
ensemblrs267608426
geneviewrs267608426
scholarrs267608426
googlers267608426
pharmgkbrs267608426
gwascentralrs267608426
openSNPrs267608426
23andMers267608426
SNPshotrs267608426
SNPdbers267608426
MSV3drs267608426
GWAS Ctlgrs267608426
Max Magnitude0
ClinVar
Risk rs267608426(-;-)
Alt rs267608426(-;-)
Reference Rs267608426(AGAA;AGAA)
Significance Pathogenic
Disease Rett syndrome Angelman syndrome Mental retardation
Variation info
Gene MECP2
CLNDBN Rett syndrome Angelman syndrome Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153297924_153297927delTTCT
CLNSRC
CLNACC RCV000132853.2, RCV000473677.1,