rs113710653
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs113710653(C;T) |
| Make rs113710653(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 21 |
| Position | 46161921 |
| Gene | SPATC1L |
| is a | snp |
| is | mentioned by |
| dbSNP | rs113710653 |
| dbSNP (classic) | rs113710653 |
| ClinGen | rs113710653 |
| ebi | rs113710653 |
| HLI | rs113710653 |
| Exac | rs113710653 |
| Gnomad | rs113710653 |
| Varsome | rs113710653 |
| LitVar | rs113710653 |
| Map | rs113710653 |
| PheGenI | rs113710653 |
| Biobank | rs113710653 |
| 1000 genomes | rs113710653 |
| hgdp | rs113710653 |
| ensembl | rs113710653 |
| geneview | rs113710653 |
| scholar | rs113710653 |
| rs113710653 | |
| pharmgkb | rs113710653 |
| gwascentral | rs113710653 |
| openSNP | rs113710653 |
| 23andMe | rs113710653 |
| SNPshot | rs113710653 |
| SNPdbe | rs113710653 |
| MSV3d | rs113710653 |
| GWAS Ctlg | rs113710653 |
| Max Magnitude | 0 |
A 2017 publication reported that rs113710653 [C/T (E231K)] of the spermatogenesis- and centriole associated 1-like gene (SPATC1L) was significantly associated with true aortic aneurysm (dominant model; P=0.0002; odds ratio, 5.32, P<2.78x10e-4) in their study of Japanese individuals. However, the frequency of the minor allele is higher than might be expected for such an impactful allele. [PMID 28339009
]
| ClinVar | |
|---|---|
| Risk | rs113710653(T;T) |
| Alt | rs113710653(T;T) |
| Reference | Rs113710653(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | SPATC1L |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000021.8:g.47581835C>T |
| CLNSRC | |
| CLNACC | RCV000455748.1, |
