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rs121964856

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6 Familial hypertrophic cardiomyopathy (possible)
(C;T) 7 Hypertrophic Cardiomyopathy
(G;G) 0 common in clinvar


Make rs121964856(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position201365297
GeneTNNT2
is asnp
is mentioned by
dbSNPrs121964856
dbSNP (classic)rs121964856
ClinGenrs121964856
ebirs121964856
HLIrs121964856
Exacrs121964856
Gnomadrs121964856
Varsomers121964856
LitVarrs121964856
Maprs121964856
PheGenIrs121964856
Biobankrs121964856
1000 genomesrs121964856
hgdprs121964856
ensemblrs121964856
geneviewrs121964856
scholarrs121964856
googlers121964856
pharmgkbrs121964856
gwascentralrs121964856
openSNPrs121964856
23andMers121964856
SNPshotrs121964856
SNPdbers121964856
MSV3drs121964856
GWAS Ctlgrs121964856
Max Magnitude7

The rare minor allele of this variant is reported to be pathogenic/likely pathogenic for familial hypertrophic cardiomyopathy (HCM), according to [PMID 25611685OA-icon.png].

OMIM191045
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121964856(A;A) rs121964856(T;T)
Alt rs121964856(A;A) rs121964856(T;T)
Reference Rs121964856(G;G)
Significance Other
Disease not provided Familial hypertrophic cardiomyopathy 2 Primary familial hypertrophic cardiomyopathy
Variation info
Gene TNNT2
CLNDBN not provided Familial hypertrophic cardiomyopathy 2 Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000001.10:g.201334425C>A; NC_000001.10:g.201334425C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000223821.1, RCV000013220.21, RCV000159281.4, RCV000211865.1,