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, |
