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rs141121678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs141121678(A;A)
Make rs141121678(A;C)
ReferenceGRCh38 38.1/142
Chromosome1
Position201359220
GeneTNNT2
is asnp
is mentioned by
dbSNPrs141121678
dbSNP (classic)rs141121678
ClinGenrs141121678
ebirs141121678
HLIrs141121678
Exacrs141121678
Gnomadrs141121678
Varsomers141121678
LitVarrs141121678
Maprs141121678
PheGenIrs141121678
Biobankrs141121678
1000 genomesrs141121678
hgdprs141121678
ensemblrs141121678
geneviewrs141121678
scholarrs141121678
googlers141121678
pharmgkbrs141121678
gwascentralrs141121678
openSNPrs141121678
23andMers141121678
SNPshotrs141121678
SNPdbers141121678
MSV3drs141121678
GWAS Ctlgrs141121678
Max Magnitude0
ClinVar
Risk rs141121678(A;A) rs141121678(T;T)
Alt rs141121678(A;A) rs141121678(T;T)
Reference Rs141121678(C;C)
Significance Probable-Pathogenic
Disease not specified Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6
Variation info
Gene TNNT2
CLNDBN not specified Primary familial hypertrophic cardiomyopathy not provided Cardiovascular phenotype Familial hypertrophic cardiomyopathy 2 Familial restrictive cardiomyopathy 3 Left ventricular noncompaction 6
Reversed 0
HGVS NC_000001.10:g.201328348C>T
CLNSRC Children's Hospital of Eastern Ontario
CLNACC RCV000036626.3, RCV000148899.2, RCV000223838.1, RCV000245252.1, RCV000459071.1,