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rs1071646

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1071646(A;A)
Make rs1071646(A;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position63059641
GeneTPM1
is asnp
is mentioned by
dbSNPrs1071646
dbSNP (classic)rs1071646
ClinGenrs1071646
ebirs1071646
HLIrs1071646
Exacrs1071646
Gnomadrs1071646
Varsomers1071646
LitVarrs1071646
Maprs1071646
PheGenIrs1071646
Biobankrs1071646
1000 genomesrs1071646
hgdprs1071646
ensemblrs1071646
geneviewrs1071646
scholarrs1071646
googlers1071646
pharmgkbrs1071646
gwascentralrs1071646
openSNPrs1071646
23andMers1071646
SNPshotrs1071646
SNPdbers1071646
MSV3drs1071646
GWAS Ctlgrs1071646
Max Magnitude0
? (A;A) (A;C) (C;C) 28


[PMID 26400351] Significance of sarcomere gene mutation in patients with dilated cardiomyopathy

ClinVar
Risk rs1071646(A;A)
Alt rs1071646(A;A)
Reference Rs1071646(C;C)
Significance Probable-non-pathogenic
Disease not provided not specified Cardiovascular phenotype Dilated Cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene TPM1
CLNDBN not provided not specified Cardiovascular phenotype Dilated Cardiomyopathy, Dominant Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000015.9:g.63351840C>A
CLNSRC Leiden Muscular Dystrophy pages (TPM1)
CLNACC RCV000024584.3, RCV000036332.4, RCV000248314.1, RCV000280647.1, RCV000373427.1,