rs368219776
From SNPedia
Orientation | plus |
Stabilized | 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 |
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, |