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rs61749750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61749750(-;-)
Make rs61749750(-;G)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031089
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749750
dbSNP (classic)rs61749750
ClinGenrs61749750
ebirs61749750
HLIrs61749750
Exacrs61749750
Gnomadrs61749750
Varsomers61749750
LitVarrs61749750
Maprs61749750
PheGenIrs61749750
Biobankrs61749750
1000 genomesrs61749750
hgdprs61749750
ensemblrs61749750
geneviewrs61749750
scholarrs61749750
googlers61749750
pharmgkbrs61749750
gwascentralrs61749750
openSNPrs61749750
23andMers61749750
SNPshotrs61749750
SNPdbers61749750
MSV3drs61749750
GWAS Ctlgrs61749750
Max Magnitude0
ClinVar
Risk rs61749750(-;-)
Alt rs61749750(-;-)
Reference Rs61749750(G;G)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296540delC
CLNSRC
CLNACC RCV000133216.2,