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rs727504354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs727504354(G;G)
Make rs727504354(G;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position63062635
GeneTPM1
is asnp
is mentioned by
dbSNPrs727504354
dbSNP (classic)rs727504354
ClinGenrs727504354
ebirs727504354
HLIrs727504354
Exacrs727504354
Gnomadrs727504354
Varsomers727504354
LitVarrs727504354
Maprs727504354
PheGenIrs727504354
Biobankrs727504354
1000 genomesrs727504354
hgdprs727504354
ensemblrs727504354
geneviewrs727504354
scholarrs727504354
googlers727504354
pharmgkbrs727504354
gwascentralrs727504354
openSNPrs727504354
23andMers727504354
SNPshotrs727504354
SNPdbers727504354
MSV3drs727504354
GWAS Ctlgrs727504354
Max Magnitude0
ClinVar
Risk rs727504354(A;A) rs727504354(G;G)
Alt rs727504354(A;A) rs727504354(G;G)
Reference Rs727504354(T;T)
Significance Probable-Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy
Variation info
Gene TPM1
CLNDBN not specified Primary familial hypertrophic cardiomyopathy
Reversed 0
HGVS NC_000015.9:g.63354834T>A; NC_000015.9:g.63354834T>G
CLNSRC
CLNACC RCV000223807.1, RCV000154482.2,