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rs61749723

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61749723(C;T)
Make rs61749723(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154030923
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749723
ebirs61749723
HLIrs61749723
Exacrs61749723
Varsomers61749723
Maprs61749723
PheGenIrs61749723
hapmaprs61749723
1000 genomesrs61749723
hgdprs61749723
ensemblrs61749723
gopubmedrs61749723
geneviewrs61749723
scholarrs61749723
googlers61749723
pharmgkbrs61749723
gwascentralrs61749723
openSNPrs61749723
23andMers61749723
23andMe allrs61749723
SNP Nexus

SNPshotrs61749723
SNPdbers61749723
MSV3drs61749723
GWAS Ctlgrs61749723
Max Magnitude0
ClinVar
Risk rs61749723(A,G,T;A,G,T)
Alt rs61749723(A,G,T;A,G,T)
Reference rs61749723(C;C)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296374G>A; NC_000023.10:g.153296374G>C; NC_000023.10:g.153296374G>T
CLNSRC
CLNACC RCV000133281.2, RCV000133280.2, RCV000133279.2,