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rs121964858

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121964858(A;A)
Make rs121964858(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position201365244
GeneTNNT2
is asnp
is mentioned by
dbSNPrs121964858
ebirs121964858
HLIrs121964858
Exacrs121964858
Varsomers121964858
Maprs121964858
PheGenIrs121964858
hapmaprs121964858
1000 genomesrs121964858
hgdprs121964858
ensemblrs121964858
gopubmedrs121964858
geneviewrs121964858
scholarrs121964858
googlers121964858
pharmgkbrs121964858
gwascentralrs121964858
openSNPrs121964858
23andMers121964858
23andMe allrs121964858
SNP Nexus

SNPshotrs121964858
SNPdbers121964858
MSV3drs121964858
GWAS Ctlgrs121964858
Max Magnitude0
OMIM191045
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121964858(A,C,G;A,C,G)
Alt rs121964858(A,C,G;A,C,G)
Reference rs121964858(T;T)
Significance Pathogenic
Disease not specified not provided Familial hypertrophic cardiomyopathy 2
Variation info
Gene TNNT2
CLNDBN not specified not provided Familial hypertrophic cardiomyopathy 2
Reversed 1
HGVS NC_000001.10:g.201334372A>C; NC_000001.10:g.201334372A>G; NC_000001.10:g.201334372A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000223859.1, RCV000223771.1, RCV000013223.16, RCV000223682.1,