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rs199476317

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199476317(A;A)
Make rs199476317(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position63062263
GeneTPM1
is asnp
is mentioned by
dbSNPrs199476317
ebirs199476317
HLIrs199476317
Exacrs199476317
Varsomers199476317
Maprs199476317
PheGenIrs199476317
hapmaprs199476317
1000 genomesrs199476317
hgdprs199476317
ensemblrs199476317
gopubmedrs199476317
geneviewrs199476317
scholarrs199476317
googlers199476317
pharmgkbrs199476317
gwascentralrs199476317
openSNPrs199476317
23andMers199476317
23andMe allrs199476317
SNP Nexus

SNPshotrs199476317
SNPdbers199476317
MSV3drs199476317
GWAS Ctlgrs199476317
Max Magnitude0
ClinVar
Risk rs199476317(A;A)
Alt rs199476317(A;A)
Reference rs199476317(G;G)
Significance Pathogenic
Disease not provided Primary dilated cardiomyopathy
Variation info
Gene TPM1
CLNDBN not provided Primary dilated cardiomyopathy
Reversed 0
HGVS NC_000015.9:g.63354462G>A
CLNSRC Leiden Muscular Dystrophy pages (TPM1)
CLNACC RCV000024580.2, RCV000036354.3,


[PMID 20117437OA-icon.png] Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.