rs267607130

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	6.2	Familial Hypertrophic Cardiomyopathy
(C;C)	6	Dilated cardiomyopathy, type 1FF

Reference

GRCh38 38.1/141

Chromosome

19

Position

55157052

Gene

TNNI3

is a	snp
is	mentioned by
dbSNP	rs267607130
dbSNP (classic)	rs267607130
ClinGen	rs267607130
ebi	rs267607130
HLI	rs267607130
Exac	rs267607130
Gnomad	rs267607130
Varsome	rs267607130
LitVar	rs267607130
Map	rs267607130
PheGenI	rs267607130
Biobank	rs267607130
1000 genomes	rs267607130
hgdp	rs267607130
ensembl	rs267607130
geneview	rs267607130
scholar	rs267607130
google	rs267607130
pharmgkb	rs267607130
gwascentral	rs267607130
openSNP	rs267607130
23andMe	rs267607130
SNPshot	rs267607130
SNPdbe	rs267607130
MSV3d	rs267607130
GWAS Ctlg	rs267607130

Max Magnitude

6.2

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 UniProtKB (protein)
CLNACC	RCV000013243.25,