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rs267607130

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position55157052
GeneTNNI3
is asnp
is mentioned by
dbSNPrs267607130
ebirs267607130
HLIrs267607130
Exacrs267607130
Varsomers267607130
Maprs267607130
PheGenIrs267607130
hapmaprs267607130
1000 genomesrs267607130
hgdprs267607130
ensemblrs267607130
gopubmedrs267607130
geneviewrs267607130
scholarrs267607130
googlers267607130
pharmgkbrs267607130
gwascentralrs267607130
openSNPrs267607130
23andMers267607130
23andMe allrs267607130
SNP Nexus

SNPshotrs267607130
SNPdbers267607130
MSV3drs267607130
GWAS Ctlgrs267607130
Max Magnitude0

rs267607130, also known as c.106A>C, p.Lys36Gln and K36Q, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs267607130(C) allele is reported to lead to dilated cardiomyopathy, type 1FF. For more information, see OMIM 191044.0012.

This mutation is referred to as i5007736 by 23andMe.


ClinVar
Risk rs267607130(C;C)
Alt rs267607130(C;C)
Reference rs267607130(A;A)
Significance Pathogenic
Disease Dilated cardiomyopathy 1FF
Variation info
Gene TNNI3
CLNDBN Dilated cardiomyopathy 1FF
Reversed 1
HGVS NC_000019.9:g.55668420T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013243.24,