rs104894727

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	6	Familial hypertrophic cardiomyopathy, type 7
(A;G)	6.2	Familial Hypertrophic Cardiomyopathy
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

19

Position

55151881

Gene

TNNI3

is a	snp
is	mentioned by
dbSNP	rs104894727
dbSNP (classic)	rs104894727
ClinGen	rs104894727
ebi	rs104894727
HLI	rs104894727
Exac	rs104894727
Gnomad	rs104894727
Varsome	rs104894727
LitVar	rs104894727
Map	rs104894727
PheGenI	rs104894727
Biobank	rs104894727
1000 genomes	rs104894727
hgdp	rs104894727
ensembl	rs104894727
geneview	rs104894727
scholar	rs104894727
google	rs104894727
pharmgkb	rs104894727
gwascentral	rs104894727
openSNP	rs104894727
23andMe	rs104894727
SNPshot	rs104894727
SNPdbe	rs104894727
MSV3d	rs104894727
GWAS Ctlg	rs104894727

Max Magnitude

6.2

rs104894727, also known as c.586G>A, p.Asp196Asn and D196N, represents a rare mutation in the TNNI3 gene on chromosome 19.

A single copy of the rare rs104894727(A) allele is reported to lead to familial hypertrophic cardiomyopathy, type 7. For more information, see OMIM 191044.0004.

This mutation is referred to as i5007730 by 23andMe.

OMIM	191044
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs104894727(A;A) rs104894727(T;T)
Alt	Rs104894727(A;A) rs104894727(T;T)
Reference	Rs104894727(G;G)
Significance	Pathogenic
Disease	not specified Familial hypertrophic cardiomyopathy 7 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Variation	info
Gene	TNNI3
CLNDBN	not specified Familial hypertrophic cardiomyopathy 7 Primary familial hypertrophic cardiomyopathy not provided Hypertrophic cardiomyopathy
Reversed	1
HGVS	NC_000019.9:g.55663249C>A; NC_000019.9:g.55663249C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000156282.1, RCV000013234.23, RCV000036308.2, RCV000148897.1, RCV000159246.2, RCV000461416.1,