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rs199476408

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199476408(C;T)
Make rs199476408(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position68165803
GeneMYPN
is asnp
is mentioned by
dbSNPrs199476408
ebirs199476408
HLIrs199476408
Exacrs199476408
Varsomers199476408
Maprs199476408
PheGenIrs199476408
hapmaprs199476408
1000 genomesrs199476408
hgdprs199476408
ensemblrs199476408
gopubmedrs199476408
geneviewrs199476408
scholarrs199476408
googlers199476408
pharmgkbrs199476408
gwascentralrs199476408
openSNPrs199476408
23andMers199476408
23andMe allrs199476408
SNP Nexus

SNPshotrs199476408
SNPdbers199476408
MSV3drs199476408
GWAS Ctlgrs199476408
Max Magnitude0
ClinVar
Risk rs199476408(T;T)
Alt rs199476408(T;T)
Reference rs199476408(C;C)
Significance Pathogenic
Disease not provided Cardiomyopathy
Variation info
Gene MYPN
CLNDBN not provided Cardiomyopathy, familial restrictive, 4
Reversed 0
HGVS NC_000010.10:g.69925560C>T
CLNSRC Leiden Muscular Dystrophy pages (MYPN) OMIM Allelic Variant
CLNACC RCV000024509.1, RCV000043547.2,


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