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rs28934907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28934907(C;T)
Make rs28934907(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154032268
GeneMECP2
is asnp
is mentioned by
dbSNPrs28934907
ebirs28934907
HLIrs28934907
Exacrs28934907
Varsomers28934907
Maprs28934907
PheGenIrs28934907
hapmaprs28934907
1000 genomesrs28934907
hgdprs28934907
ensemblrs28934907
gopubmedrs28934907
geneviewrs28934907
scholarrs28934907
googlers28934907
pharmgkbrs28934907
gwascentralrs28934907
openSNPrs28934907
23andMers28934907
23andMe allrs28934907
SNP Nexus

SNPshotrs28934907
SNPdbers28934907
MSV3drs28934907
GWAS Ctlgrs28934907
Max Magnitude0
OMIM300005
DescRETT SYNDROME
Variant0008
Relatedalso
Neighborrs28934904
Distance837
Neighborrs28935168
Distance18


ClinVar
Risk rs28934907(G,T;G,T)
Alt rs28934907(G,T;G,T)
Reference rs28934907(C;C)
Significance Pathogenic
Disease Rett syndrome
Variation info
Gene MECP2
CLNDBN Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153297719G>A; NC_000023.10:g.153297719G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012585.24, RCV000133065.2,



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