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rs61748421

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61748421(C;T)
Make rs61748421(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031326
GeneMECP2
is asnp
is mentioned by
dbSNPrs61748421
ebirs61748421
HLIrs61748421
Exacrs61748421
Varsomers61748421
Maprs61748421
PheGenIrs61748421
hapmaprs61748421
1000 genomesrs61748421
hgdprs61748421
ensemblrs61748421
gopubmedrs61748421
geneviewrs61748421
scholarrs61748421
googlers61748421
pharmgkbrs61748421
gwascentralrs61748421
openSNPrs61748421
23andMers61748421
23andMe allrs61748421
SNP Nexus

SNPshotrs61748421
SNPdbers61748421
MSV3drs61748421
GWAS Ctlgrs61748421
Max Magnitude0
OMIM300005
Desc
Variant0020
Relatedalso


ClinVar
Risk rs61748421(A,T;A,T)
Alt rs61748421(A,T;A,T)
Reference rs61748421(C;C)
Significance Pathogenic
Disease Rett syndrome not provided Intellectual disability
Variation info
Gene MECP2
CLNDBN Rett syndrome not provided Intellectual disability
Reversed 1
HGVS NC_000023.10:g.153296777G>A; NC_000023.10:g.153296777G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012601.22, RCV000133143.4, RCV000224869.1, RCV000170207.1,



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