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rs199476316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199476316(C;T)
Make rs199476316(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position63062219
GeneTPM1
is asnp
is mentioned by
dbSNPrs199476316
ebirs199476316
HLIrs199476316
Exacrs199476316
Varsomers199476316
Maprs199476316
PheGenIrs199476316
hapmaprs199476316
1000 genomesrs199476316
hgdprs199476316
ensemblrs199476316
gopubmedrs199476316
geneviewrs199476316
scholarrs199476316
googlers199476316
pharmgkbrs199476316
gwascentralrs199476316
openSNPrs199476316
23andMers199476316
23andMe allrs199476316
SNP Nexus

SNPshotrs199476316
SNPdbers199476316
MSV3drs199476316
GWAS Ctlgrs199476316
Max Magnitude0
ClinVar
Risk rs199476316(T;T)
Alt rs199476316(T;T)
Reference rs199476316(C;C)
Significance Pathogenic
Disease not provided not specified Primary familial hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy
Variation info
Gene TPM1
CLNDBN not provided not specified Primary familial hypertrophic cardiomyopathy Cardiomyopathy Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000015.9:g.63354418C>T
CLNSRC Leiden Muscular Dystrophy pages (TPM1)
CLNACC RCV000024579.2, RCV000036350.2, RCV000143959.2, RCV000144848.2, RCV000168063.1,