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rs121964857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964857(C;T)
Make rs121964857(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position201359245
GeneTNNT2
is asnp
is mentioned by
dbSNPrs121964857
ebirs121964857
HLIrs121964857
Exacrs121964857
Varsomers121964857
Maprs121964857
PheGenIrs121964857
hapmaprs121964857
1000 genomesrs121964857
hgdprs121964857
ensemblrs121964857
gopubmedrs121964857
geneviewrs121964857
scholarrs121964857
googlers121964857
pharmgkbrs121964857
gwascentralrs121964857
openSNPrs121964857
23andMers121964857
23andMe allrs121964857
SNP Nexus

SNPshotrs121964857
SNPdbers121964857
MSV3drs121964857
GWAS Ctlgrs121964857
Max Magnitude0
OMIM191045
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121964857(T;T)
Alt rs121964857(T;T)
Reference rs121964857(C;C)
Significance Pathogenic
Disease Familial hypertrophic cardiomyopathy 2 not specified Primary familial hypertrophic cardiomyopathy Costello syndrome not provided Familial hypertrophic cardiomyopathy 1 Left ventricular noncompaction 6
Variation info
Gene TNNT2
CLNDBN Familial hypertrophic cardiomyopathy 2 not specified Primary familial hypertrophic cardiomyopathy Costello syndrome not provided Familial hypertrophic cardiomyopathy 1 Left ventricular noncompaction 6
Reversed 1
HGVS NC_000001.10:g.201328373G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000013222.23, RCV000036622.4, RCV000148898.1, RCV000157540.1, RCV000159322.2, RCV000162331.1, RCV000203739.2,