rs368219776

plus

Geno	Mag	Summary
(C;C)	0	common/normal
(C;T)	2.7	Possible (silent?) cardiac issue

Make rs368219776(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

2

Position

178642236

Gene

TTN

is a	snp
is	mentioned by
dbSNP	rs368219776
dbSNP (classic)	rs368219776
ClinGen	rs368219776
ebi	rs368219776
HLI	rs368219776
Exac	rs368219776
Gnomad	rs368219776
Varsome	rs368219776
LitVar	rs368219776
Map	rs368219776
PheGenI	rs368219776
Biobank	rs368219776
1000 genomes	rs368219776
hgdp	rs368219776
ensembl	rs368219776
geneview	rs368219776
scholar	rs368219776
google	rs368219776
pharmgkb	rs368219776
gwascentral	rs368219776
openSNP	rs368219776
23andMe	rs368219776
SNPshot	rs368219776
SNPdbe	rs368219776
MSV3d	rs368219776
GWAS Ctlg	rs368219776

Max Magnitude

2.7

rs368219776, also known as c.40558+1G>A, is a rare mutation in the TTN gene.

10.1038/ng.3719 Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM), yet may be silently present in ~1% of the general population. This variant was observed in healthy humans, where machine-learning-based analysis of high-resolution cardiac imaging showed it to be associated with eccentric cardiac remodeling.

ClinVar
Risk	rs368219776(T;T)
Alt	rs368219776(T;T)
Reference	Rs368219776(C;C)
Significance	Unknown
Disease	Primary dilated cardiomyopathy not specified Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure Myopathy
Variation	info
Gene	TTN
CLNDBN	Primary dilated cardiomyopathy not specified Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J Distal myopathy Markesbery-Griggs type Familial hypertrophic cardiomyopathy 9 Hereditary myopathy with early respiratory failure Myopathy, early-onset, with fatal cardiomyopathy
Reversed	0
HGVS	NC_000002.11:g.179506963C>T
CLNSRC
CLNACC	RCV000209704.1, RCV000221188.2, RCV000456920.1, RCV000477783.1,