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rs121917760

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917760(A;A)
Make rs121917760(A;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position55154148
GeneTNNI3
is asnp
is mentioned by
dbSNPrs121917760
ebirs121917760
HLIrs121917760
Exacrs121917760
Varsomers121917760
Maprs121917760
PheGenIrs121917760
hapmaprs121917760
1000 genomesrs121917760
hgdprs121917760
ensemblrs121917760
gopubmedrs121917760
geneviewrs121917760
scholarrs121917760
googlers121917760
pharmgkbrs121917760
gwascentralrs121917760
openSNPrs121917760
23andMers121917760
23andMe allrs121917760
SNP Nexus

SNPshotrs121917760
SNPdbers121917760
MSV3drs121917760
GWAS Ctlgrs121917760
Max Magnitude0
OMIM191044
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121917760(A,C;A,C)
Alt rs121917760(A,C;A,C)
Reference rs121917760(T;T)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy Familial restrictive cardiomyopathy 1
Variation info
Gene TNNI3
CLNDBN Primary familial hypertrophic cardiomyopathy Familial restrictive cardiomyopathy 1
Reversed 1
HGVS NC_000019.9:g.55665516A>G; NC_000019.9:g.55665516A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000036292.3, RCV000013241.22,