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rs199476312

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476312(C;C)
Make rs199476312(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position63060891
GeneTPM1
is asnp
is mentioned by
dbSNPrs199476312
ebirs199476312
HLIrs199476312
Exacrs199476312
Varsomers199476312
Maprs199476312
PheGenIrs199476312
hapmaprs199476312
1000 genomesrs199476312
hgdprs199476312
ensemblrs199476312
gopubmedrs199476312
geneviewrs199476312
scholarrs199476312
googlers199476312
pharmgkbrs199476312
gwascentralrs199476312
openSNPrs199476312
23andMers199476312
23andMe allrs199476312
SNP Nexus

SNPshotrs199476312
SNPdbers199476312
MSV3drs199476312
GWAS Ctlgrs199476312
Max Magnitude0
ClinVar
Risk rs199476312(C;C)
Alt rs199476312(C;C)
Reference rs199476312(T;T)
Significance Pathogenic
Disease not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene TPM1
CLNDBN not provided Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000015.9:g.63353090T>C
CLNSRC Leiden Muscular Dystrophy pages (TPM1)
CLNACC RCV000024575.2, RCV000148916.1,