rs104894728

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	5	Familial hypertrophic cardiomyopathy, type 7
(G;G)	6	Familial hypertrophic cardiomyopathy, type 7

Reference

GRCh38 38.1/141

Chromosome

19

Position

55151898

Gene

TNNI3

is a	snp
is	mentioned by
dbSNP	rs104894728
dbSNP (classic)	rs104894728
ClinGen	rs104894728
ebi	rs104894728
HLI	rs104894728
Exac	rs104894728
Gnomad	rs104894728
Varsome	rs104894728
LitVar	rs104894728
Map	rs104894728
PheGenI	rs104894728
Biobank	rs104894728
1000 genomes	rs104894728
hgdp	rs104894728
ensembl	rs104894728
geneview	rs104894728
scholar	rs104894728
google	rs104894728
pharmgkb	rs104894728
gwascentral	rs104894728
openSNP	rs104894728
23andMe	rs104894728
SNPshot	rs104894728
SNPdbe	rs104894728
MSV3d	rs104894728
GWAS Ctlg	rs104894728

Max Magnitude

6

rs104894728, also known as c.569A>G, p.Asp190Gly and D190G, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs104894728(G) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0005.

This mutation is referred to as i5007731 by 23andMe.

OMIM	191044
Desc
Variant	0005
Related	also

ClinVar
Risk	Rs104894728(G;G)
Alt	Rs104894728(G;G)
Reference	Rs104894728(A;A)
Significance	Pathogenic
Disease	Familial hypertrophic cardiomyopathy 7 Familial restrictive cardiomyopathy 1
Variation	info
Gene	TNNI3
CLNDBN	Familial hypertrophic cardiomyopathy 7 Familial restrictive cardiomyopathy 1
Reversed	1
HGVS	NC_000019.9:g.55663266T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013235.24, RCV000013236.23,