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rs199476310

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476310(C;C)
Make rs199476310(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position63057019
GeneTPM1
is asnp
is mentioned by
dbSNPrs199476310
dbSNP (classic)rs199476310
ClinGenrs199476310
ebirs199476310
HLIrs199476310
Exacrs199476310
Gnomadrs199476310
Varsomers199476310
LitVarrs199476310
Maprs199476310
PheGenIrs199476310
Biobankrs199476310
1000 genomesrs199476310
hgdprs199476310
ensemblrs199476310
geneviewrs199476310
scholarrs199476310
googlers199476310
pharmgkbrs199476310
gwascentralrs199476310
openSNPrs199476310
23andMers199476310
SNPshotrs199476310
SNPdbers199476310
MSV3drs199476310
GWAS Ctlgrs199476310
Max Magnitude0
ClinVar
Risk rs199476310(C;C)
Alt rs199476310(C;C)
Reference Rs199476310(T;T)
Significance Probable-Pathogenic
Disease not provided Primary dilated cardiomyopathy
Variation info
Gene TPM1
CLNDBN not provided Primary dilated cardiomyopathy
Reversed 0
HGVS NC_000015.9:g.63349218T>C
CLNSRC Leiden Muscular Dystrophy pages (TPM1)
CLNACC RCV000024587.1, RCV000036322.3,


[PMID 20215591OA-icon.png] Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.