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rs199476321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199476321(C;C)
Make rs199476321(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position63064133
GeneTPM1
is asnp
is mentioned by
dbSNPrs199476321
dbSNP (classic)rs199476321
ClinGenrs199476321
ebirs199476321
HLIrs199476321
Exacrs199476321
Gnomadrs199476321
Varsomers199476321
LitVarrs199476321
Maprs199476321
PheGenIrs199476321
Biobankrs199476321
1000 genomesrs199476321
hgdprs199476321
ensemblrs199476321
geneviewrs199476321
scholarrs199476321
googlers199476321
pharmgkbrs199476321
gwascentralrs199476321
openSNPrs199476321
23andMers199476321
SNPshotrs199476321
SNPdbers199476321
MSV3drs199476321
GWAS Ctlgrs199476321
Max Magnitude0
ClinVar
Risk rs199476321(C;C)
Alt rs199476321(C;C)
Reference Rs199476321(T;T)
Significance Pathogenic
Disease not provided not specified Hypertrophic cardiomyopathy
Variation info
Gene TPM1
CLNDBN not provided not specified Hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000015.9:g.63356332T>C
CLNSRC Leiden Muscular Dystrophy pages (TPM1)
CLNACC RCV000024581.2, RCV000154219.1, RCV000232738.1,