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rs61749715

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61749715(C;G)
Make rs61749715(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031154
GeneMECP2
is asnp
is mentioned by
dbSNPrs61749715
ebirs61749715
HLIrs61749715
Exacrs61749715
Varsomers61749715
Maprs61749715
PheGenIrs61749715
hapmaprs61749715
1000 genomesrs61749715
hgdprs61749715
ensemblrs61749715
gopubmedrs61749715
geneviewrs61749715
scholarrs61749715
googlers61749715
pharmgkbrs61749715
gwascentralrs61749715
openSNPrs61749715
23andMers61749715
23andMe allrs61749715
SNP Nexus

SNPshotrs61749715
SNPdbers61749715
MSV3drs61749715
GWAS Ctlgrs61749715
Max Magnitude0
OMIM300005
Desc
Variant0033
Relatedalso


ClinVar
Risk rs61749715(G,T;G,T)
Alt rs61749715(G,T;G,T)
Reference rs61749715(C;C)
Significance Pathogenic
Disease Mental retardation Rett syndrome
Variation info
Gene MECP2
CLNDBN Mental retardation, X-linked, syndromic 13 Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296605G>A; NC_000023.10:g.153296605G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012615.24, RCV000133194.2, RCV000133193.2,



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