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rs727504245

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727504245(C;T)
Make rs727504245(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position201365261
GeneTNNT2
is asnp
is mentioned by
dbSNPrs727504245
dbSNP (old)rs727504245
ClinGenrs727504245
ebirs727504245
HLIrs727504245
Exacrs727504245
Gnomadrs727504245
Varsomers727504245
Maprs727504245
PheGenIrs727504245
Biobankrs727504245
1000 genomesrs727504245
hgdprs727504245
ensemblrs727504245
gopubmedrs727504245
geneviewrs727504245
scholarrs727504245
googlers727504245
pharmgkbrs727504245
gwascentralrs727504245
openSNPrs727504245
23andMers727504245
23andMe allrs727504245
SNP Nexus

SNPshotrs727504245
SNPdbers727504245
MSV3drs727504245
GWAS Ctlgrs727504245
Max Magnitude0
ClinVar
Risk rs727504245(T;T)
Alt rs727504245(T;T)
Reference Rs727504245(C;C)
Significance Probable-Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6
Variation info
Gene TNNT2
CLNDBN not specified Primary familial hypertrophic cardiomyopathy Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6
Reversed 1
HGVS NC_000001.10:g.201334389G>A
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000154215.2, RCV000168965.2, RCV000476946.1,