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rs61749739

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61749739(C;T)
Make rs61749739(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position154031142
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749739
dbSNP (old)rs61749739
ClinGenrs61749739
ebirs61749739
HLIrs61749739
Exacrs61749739
Gnomadrs61749739
Varsomers61749739
Maprs61749739
PheGenIrs61749739
Biobankrs61749739
1000 genomesrs61749739
hgdprs61749739
ensemblrs61749739
gopubmedrs61749739
geneviewrs61749739
scholarrs61749739
googlers61749739
pharmgkbrs61749739
gwascentralrs61749739
openSNPrs61749739
23andMers61749739
23andMe allrs61749739
SNP Nexus

SNPshotrs61749739
SNPdbers61749739
MSV3drs61749739
GWAS Ctlgrs61749739
Max Magnitude0
ClinVar
Risk rs61749739(A;A) rs61749739(T;T)
Alt rs61749739(A;A) rs61749739(T;T)
Reference Rs61749739(C;C)
Significance Other
Disease not specified Angelman syndrome Mental retardation Rett syndrome not provided
Variation info
Gene MECP2
CLNDBN not specified Angelman syndrome Mental retardation, X-linked, syndromic 13 Rett syndrome not provided
Reversed 1
HGVS NC_000023.10:g.153296593G>A; NC_000023.10:g.153296593G>T
CLNSRC UniProtKB (protein)
CLNACC RCV000133200.4, RCV000460836.1, RCV000133199.2, RCV000193948.1,