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rs28934905

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28934905(C;C)
Make rs28934905(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154031364
GeneMECP2
is asnp
is mentioned by
dbSNPrs28934905
ebirs28934905
HLIrs28934905
Exacrs28934905
Varsomers28934905
Maprs28934905
PheGenIrs28934905
hapmaprs28934905
1000 genomesrs28934905
hgdprs28934905
ensemblrs28934905
gopubmedrs28934905
geneviewrs28934905
scholarrs28934905
googlers28934905
pharmgkbrs28934905
gwascentralrs28934905
openSNPrs28934905
23andMers28934905
23andMe allrs28934905
SNP Nexus

SNPshotrs28934905
SNPdbers28934905
MSV3drs28934905
GWAS Ctlgrs28934905
Max Magnitude0
OMIM300005
DescRETT SYNDROME
Variant0002
Relatedalso
Neighborrs28934906
Distance9
Neighborrs28934908
Distance45


ClinVar
Risk rs28934905(C,G;C,G)
Alt rs28934905(C,G;C,G)
Reference rs28934905(T;T)
Significance Pathogenic
Disease not provided Rett syndrome
Variation info
Gene MECP2
CLNDBN not provided Rett syndrome
Reversed 1
HGVS NC_000023.10:g.153296815A>C; NC_000023.10:g.153296815A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000133119.1, RCV000170275.1, RCV000012579.21,