rs202234172
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common/normal |
(C;T) | 2.7 | Possible (silent?) cardiac issue |
Make rs202234172(T;T) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 2 |
Position | 178689897 |
Gene | TTN |
is a | snp |
is | mentioned by |
dbSNP | rs202234172 |
dbSNP (classic) | rs202234172 |
ClinGen | rs202234172 |
ebi | rs202234172 |
HLI | rs202234172 |
Exac | rs202234172 |
Gnomad | rs202234172 |
Varsome | rs202234172 |
LitVar | rs202234172 |
Map | rs202234172 |
PheGenI | rs202234172 |
Biobank | rs202234172 |
1000 genomes | rs202234172 |
hgdp | rs202234172 |
ensembl | rs202234172 |
geneview | rs202234172 |
scholar | rs202234172 |
rs202234172 | |
pharmgkb | rs202234172 |
gwascentral | rs202234172 |
openSNP | rs202234172 |
23andMe | rs202234172 |
SNPshot | rs202234172 |
SNPdbe | rs202234172 |
MSV3d | rs202234172 |
GWAS Ctlg | rs202234172 |
Max Magnitude | 2.7 |
rs202234172, also known as c.31763-1G>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 | rs202234172(T;T) |
Alt | rs202234172(T;T) |
Reference | Rs202234172(C;C) |
Significance | Other |
Disease | not specified Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy |
Variation | info |
Gene | TTN |
CLNDBN | not specified Primary dilated cardiomyopathy Dilated cardiomyopathy 1G Limb-girdle muscular dystrophy, type 2J |
Reversed | 0 |
HGVS | NC_000002.11:g.179554624C>T |
CLNSRC | |
CLNACC | RCV000040125.3, RCV000209343.2, RCV000467245.1, |