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rs71534278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs71534278(C;T)
Make rs71534278(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position68199417
GeneMYPN
is asnp
is mentioned by
dbSNPrs71534278
ebirs71534278
HLIrs71534278
Exacrs71534278
Varsomers71534278
Maprs71534278
PheGenIrs71534278
hapmaprs71534278
1000 genomesrs71534278
hgdprs71534278
ensemblrs71534278
gopubmedrs71534278
geneviewrs71534278
scholarrs71534278
googlers71534278
pharmgkbrs71534278
gwascentralrs71534278
openSNPrs71534278
23andMers71534278
23andMe allrs71534278
SNP Nexus

SNPshotrs71534278
SNPdbers71534278
MSV3drs71534278
GWAS Ctlgrs71534278
GMAF0.002296
Max Magnitude0
ClinVar
Risk rs71534278(A,T;A,T)
Alt rs71534278(A,T;A,T)
Reference rs71534278(C;C)
Significance Other
Disease Dilated cardiomyopathy not provided Dilated cardiomyopathy 1KK Familial hypertrophic cardiomyopathy 22 Primary dilated cardiomyopathy not specified
Variation info
Gene MYPN
CLNDBN Dilated cardiomyopathy not provided Dilated cardiomyopathy 1KK Familial hypertrophic cardiomyopathy 22 Primary dilated cardiomyopathy not specified
Reversed 0
HGVS NC_000010.10:g.69959174C>A; NC_000010.10:g.69959174C>T
CLNSRC Leiden Muscular Dystrophy pages (MYPN) OMIM Allelic Variant
CLNACC RCV000172079.1, RCV000024484.1, RCV000043541.4, RCV000043542.2, RCV000157384.1, RCV000172575.1, RCV000183595.2,


[PMID 18006477] Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy.


[PMID 20801532] Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.


[PMID 22286171OA-icon.png] Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations.