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rs61748396

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs61748396(C;G)
Make rs61748396(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031405
GeneMECP2
is asnp
is mentioned by
dbSNPrs61748396
ebirs61748396
HLIrs61748396
Exacrs61748396
Varsomers61748396
Maprs61748396
PheGenIrs61748396
hapmaprs61748396
1000 genomesrs61748396
hgdprs61748396
ensemblrs61748396
gopubmedrs61748396
geneviewrs61748396
scholarrs61748396
googlers61748396
pharmgkbrs61748396
gwascentralrs61748396
openSNPrs61748396
23andMers61748396
23andMe allrs61748396
SNP Nexus

SNPshotrs61748396
SNPdbers61748396
MSV3drs61748396
GWAS Ctlgrs61748396
Max Magnitude0
OMIM300005
Desc
Variant0025
Relatedalso


ClinVar
Risk rs61748396(A,G;A,G)
Alt rs61748396(A,G;A,G)
Reference rs61748396(C;C)
Significance Pathogenic
Disease Atypical Rett syndrome Angelman syndrome Rett syndrome
Variation info
Gene MECP2
CLNDBN Atypical Rett syndrome Angelman syndrome Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296856G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012606.23, RCV000133106.2, RCV000170108.1,



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