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rs104894724

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position55154146
GeneTNNI3
is asnp
is mentioned by
dbSNPrs104894724
ebirs104894724
HLIrs104894724
Exacrs104894724
Varsomers104894724
Maprs104894724
PheGenIrs104894724
hapmaprs104894724
1000 genomesrs104894724
hgdprs104894724
ensemblrs104894724
gopubmedrs104894724
geneviewrs104894724
scholarrs104894724
googlers104894724
pharmgkbrs104894724
gwascentralrs104894724
openSNPrs104894724
23andMers104894724
23andMe allrs104894724
SNP Nexus

SNPshotrs104894724
SNPdbers104894724
MSV3drs104894724
GWAS Ctlgrs104894724
Merged fromRs28934871
Max Magnitude0

rs104894724 represents two rare mutations in the TNNI3 gene on chromosome 19.

One mutation is also known as c.433C>G, p.Arg145Gly or R145G. A single copy of the rs104894724(G) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0001. This mutation is not known to be tested by 23andMe.

The other mutation is also known as c.433C>T, p.Arg145Trp or R145W. A single copy of the rs104894724(T) allele is reported to lead to familial retrictive cardiomyopathy, type 1. For more information, see OMIM 191044.0008. This mutation is referred to as i3002796 by 23andMe.

OMIM191044
Desc
Variant0001
Relatedalso
OMIM191044
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894724(G,T;G,T)
Alt rs104894724(G,T;G,T)
Reference rs104894724(C;C)
Significance Other
Disease Familial restrictive cardiomyopathy 1 Familial hypertrophic cardiomyopathy 7 not provided Primary familial hypertrophic cardiomyopathy
Variation info
Gene TNNI3
CLNDBN Familial restrictive cardiomyopathy 1 Familial hypertrophic cardiomyopathy 7 not provided Primary familial hypertrophic cardiomyopathy
Reversed 1
HGVS NC_000019.9:g.55665514G>A; NC_000019.9:g.55665514G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013239.22, RCV000036294.5, RCV000159222.2, RCV000211862.1, RCV000013231.25, RCV000211861.1,