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rs61749752

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs61749752(-;-)
Make rs61749752(-;C)
Make rs61749752(C;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031079
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749752
ebirs61749752
HLIrs61749752
Exacrs61749752
Varsomers61749752
Maprs61749752
PheGenIrs61749752
hapmaprs61749752
1000 genomesrs61749752
hgdprs61749752
ensemblrs61749752
gopubmedrs61749752
geneviewrs61749752
scholarrs61749752
googlers61749752
pharmgkbrs61749752
gwascentralrs61749752
openSNPrs61749752
23andMers61749752
23andMe allrs61749752
SNP Nexus

SNPshotrs61749752
SNPdbers61749752
MSV3drs61749752
GWAS Ctlgrs61749752
Max Magnitude0
ClinVar
Risk rs61749752(CG,TG;CG,TG)
Alt rs61749752(CG,TG;CG,TG)
Reference rs61749752(G;G)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296530_153296531insA; NC_000023.10:g.153296531dupG
CLNSRC
CLNACC RCV000133218.2, RCV000133220.2,