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rs61749721

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61749721(C;T)
Make rs61749721(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031065
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749721
ebirs61749721
HLIrs61749721
Exacrs61749721
Varsomers61749721
Maprs61749721
PheGenIrs61749721
hapmaprs61749721
1000 genomesrs61749721
hgdprs61749721
ensemblrs61749721
gopubmedrs61749721
geneviewrs61749721
scholarrs61749721
googlers61749721
pharmgkbrs61749721
gwascentralrs61749721
openSNPrs61749721
23andMers61749721
23andMe allrs61749721
SNP Nexus

SNPshotrs61749721
SNPdbers61749721
MSV3drs61749721
GWAS Ctlgrs61749721
Max Magnitude0
OMIM300005
Desc
Variant0021
Relatedalso


ClinVar
Risk rs61749721(T;T)
Alt rs61749721(T;T)
Reference rs61749721(C;C)
Significance Pathogenic
Disease Rett syndrome not provided Mental retardation
Variation info
Gene MECP2
CLNDBN Rett syndrome not provided Mental retardation, X-linked, syndromic 13
Reversed 1
HGVS NC_000023.10:g.153296516G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012602.26, RCV000081209.6, RCV000169938.2,



[PMID 17387578] Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.