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rs63749008

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0 common/normal
Make rs63749008(-;AGTCAGAA)
Make rs63749008(AGTCAGAA;AGTCAGAA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154032541
GeneMECP2
is asnp
is mentioned by
dbSNPrs63749008
dbSNP (classic)rs63749008
ClinGenrs63749008
ebirs63749008
HLIrs63749008
Exacrs63749008
Gnomadrs63749008
Varsomers63749008
LitVarrs63749008
Maprs63749008
PheGenIrs63749008
Biobankrs63749008
1000 genomesrs63749008
hgdprs63749008
ensemblrs63749008
geneviewrs63749008
scholarrs63749008
googlers63749008
pharmgkbrs63749008
gwascentralrs63749008
openSNPrs63749008
23andMers63749008
SNPshotrs63749008
SNPdbers63749008
MSV3drs63749008
GWAS Ctlgrs63749008
Max Magnitude0
ClinVar
Risk rs63749008(AGTCAGAA;AGTCAGAA)
Alt rs63749008(AGTCAGAA;AGTCAGAA)
Reference Rs63749008(-;-)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153297993_153298000dupTTCTGACT
CLNSRC
CLNACC RCV000133077.2,