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rs267608507

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs267608507(AG;AG)
Make rs267608507(AG;CA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031216
GeneMECP2
is asnp
is mentioned by
dbSNPrs267608507
dbSNP (classic)rs267608507
ClinGenrs267608507
ebirs267608507
HLIrs267608507
Exacrs267608507
Gnomadrs267608507
Varsomers267608507
LitVarrs267608507
Maprs267608507
PheGenIrs267608507
Biobankrs267608507
1000 genomesrs267608507
hgdprs267608507
ensemblrs267608507
geneviewrs267608507
scholarrs267608507
googlers267608507
pharmgkbrs267608507
gwascentralrs267608507
openSNPrs267608507
23andMers267608507
SNPshotrs267608507
SNPdbers267608507
MSV3drs267608507
GWAS Ctlgrs267608507
Max Magnitude0
ClinVar
Risk rs267608507(AG;AG)
Alt rs267608507(AG;AG)
Reference Rs267608507(CA;CA)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296667_153296668delTGinsCT
CLNSRC
CLNACC RCV000133175.2,