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rs28935468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28935468(C;T)
Make rs28935468(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154030912
GeneMECP2
is asnp
is mentioned by
dbSNPrs28935468
ebirs28935468
HLIrs28935468
Exacrs28935468
Varsomers28935468
Maprs28935468
PheGenIrs28935468
hapmaprs28935468
1000 genomesrs28935468
hgdprs28935468
ensemblrs28935468
gopubmedrs28935468
geneviewrs28935468
scholarrs28935468
googlers28935468
pharmgkbrs28935468
gwascentralrs28935468
openSNPrs28935468
23andMers28935468
23andMe allrs28935468
SNP Nexus

SNPshotrs28935468
SNPdbers28935468
MSV3drs28935468
GWAS Ctlgrs28935468
Max Magnitude0
OMIM300005
DescRETT SYNDROME
Variant0016
Relatedalso
Neighborrs28935200
Distance4391
Neighborrs28934906
Distance443


ClinVar
Risk rs28935468(T;T)
Alt rs28935468(T;T)
Reference rs28935468(C;C)
Significance Pathogenic
Disease Rett syndrome not provided Mental retardation Angelman syndrome Intellectual disability
Variation info
Gene MECP2
CLNDBN Rett syndrome not provided Mental retardation, X-linked, syndromic 13 Angelman syndrome Intellectual disability
Reversed 1
HGVS NC_000023.10:g.153296363G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012597.27, RCV000081218.6, RCV000178232.1, RCV000202468.1, RCV000224156.1,



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