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rs1800280

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common on affy axiom data
(G;G) 0 common in clinvar
(T;T) 0
Make rs1800280(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position31478233
GeneDMD
is asnp
is mentioned by
dbSNPrs1800280
ebirs1800280
HLIrs1800280
Exacrs1800280
Varsomers1800280
Maprs1800280
PheGenIrs1800280
hapmaprs1800280
1000 genomesrs1800280
hgdprs1800280
ensemblrs1800280
gopubmedrs1800280
geneviewrs1800280
scholarrs1800280
googlers1800280
pharmgkbrs1800280
gwascentralrs1800280
openSNPrs1800280
23andMers1800280
23andMe allrs1800280
SNP Nexus

SNPshotrs1800280
SNPdbers1800280
MSV3drs1800280
GWAS Ctlgrs1800280
GMAF0.06348
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene DMD
allele T
frequency 0.933
sift TOLERATED
HuRef 1103673019598
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.



Neighborrs1800278
Distance76


GET Evidence
DMD-R2937Q
aa_change Arg2937Gln
aa_change_short R2937Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.956616
summary



ClinVar
Risk rs1800280(A;A)
Alt rs1800280(A;A)
Reference rs1800280(G;G)
Significance Non-pathogenic
Disease not specified Duchenne muscular dystrophy
Variation info
Gene DMD
CLNDBN not specified Duchenne muscular dystrophy
Reversed 1
HGVS NC_000023.10:g.31496350C\x3d; NC_000023.10:g.31496350C>T
CLNSRC HGMD
CLNACC RCV000124712.2, RCV000206630.2, RCV000152765.4,