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rs228406

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(T;T) 0 common in clinvar
Make rs228406(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position32485077
GeneDMD
is asnp
is mentioned by
dbSNPrs228406
ebirs228406
HLIrs228406
Exacrs228406
Varsomers228406
Maprs228406
PheGenIrs228406
hapmaprs228406
1000 genomesrs228406
hgdprs228406
ensemblrs228406
gopubmedrs228406
geneviewrs228406
scholarrs228406
googlers228406
pharmgkbrs228406
gwascentralrs228406
openSNPrs228406
23andMers228406
23andMe allrs228406
SNP Nexus

SNPshotrs228406
SNPdbers228406
MSV3drs228406
GWAS Ctlgrs228406
GMAF0.2703
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene DMD
allele C
frequency 0.633
sift TOLERATED
HuRef 1103673020336
Disease Association Defects in DMD are a cause of dilated cardiomyopathy (MIM:302045); also known as X-linked dilated cardiomyopathy (XLCM). Dystrophin mutations may predispose to common sporadic cardiomyopathy cases.



[PMID 18339804OA-icon.png] X-inactivation in female human embryonic stem cells is in a nonrandom pattern and prone to epigenetic alterations.


GET Evidence
DMD-D882G
aa_change Asp882Gly
aa_change_short D882G
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.64996
summary



ClinVar
Risk rs228406(C;C)
Alt rs228406(C;C)
Reference rs228406(T;T)
Significance Non-pathogenic
Disease not specified Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN not specified Duchenne muscular dystrophy
Reversed 0
HGVS NC_000023.10:g.32503194T\x3d; NC_000023.10:g.32503194T>C
CLNSRC ClinVar GeneDx
CLNACC RCV000124736.2, RCV000206108.1, RCV000152984.3,