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rs1801187

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1801187(A;A)
Make rs1801187(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position32362879
GeneDMD
is asnp
is mentioned by
dbSNPrs1801187
ebirs1801187
HLIrs1801187
Exacrs1801187
Varsomers1801187
Maprs1801187
PheGenIrs1801187
hapmaprs1801187
1000 genomesrs1801187
hgdprs1801187
ensemblrs1801187
gopubmedrs1801187
geneviewrs1801187
scholarrs1801187
googlers1801187
pharmgkbrs1801187
gwascentralrs1801187
openSNPrs1801187
23andMers1801187
23andMe allrs1801187
SNP Nexus

SNPshotrs1801187
SNPdbers1801187
MSV3drs1801187
GWAS Ctlgrs1801187
GMAF0.448
Max Magnitude0
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene DMD
allele T
frequency 0.433
sift AFFECT FUNCTION
HuRef 1103673020208
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.



GET Evidence
DMD-R1745H
aa_change Arg1745His
aa_change_short R1745H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.336454
summary



ClinVar
Risk rs1801187(A;A)
Alt rs1801187(A;A)
Reference rs1801187(G;G)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DMD
CLNDBN not specified
Reversed 1
HGVS NC_000023.10:g.32380996C>T
CLNSRC ClinVar Emory University GeneDx
CLNACC RCV000080647.6,