rs757309797
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs757309797(A;A) |
| Make rs757309797(A;G) |
| Make rs757309797(G;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 6632097 |
| Gene | DCHS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs757309797 |
| dbSNP (classic) | rs757309797 |
| ClinGen | rs757309797 |
| ebi | rs757309797 |
| HLI | rs757309797 |
| Exac | rs757309797 |
| Gnomad | rs757309797 |
| Varsome | rs757309797 |
| LitVar | rs757309797 |
| Map | rs757309797 |
| PheGenI | rs757309797 |
| Biobank | rs757309797 |
| 1000 genomes | rs757309797 |
| hgdp | rs757309797 |
| ensembl | rs757309797 |
| geneview | rs757309797 |
| scholar | rs757309797 |
| rs757309797 | |
| pharmgkb | rs757309797 |
| gwascentral | rs757309797 |
| openSNP | rs757309797 |
| 23andMe | rs757309797 |
| SNPshot | rs757309797 |
| SNPdbe | rs757309797 |
| MSV3d | rs757309797 |
| GWAS Ctlg | rs757309797 |
| Max Magnitude | 0 |
rs757309797, also known as c.3415C>T, p.Arg1139Cys and R1139C, represents a rare variant in the DCHS1 gene on chromosome 11.
The rare rs757309797(A) allele (in dbSNP orientation) was observed as being one of two 'suspicious' mutations in a whole exome-based sequencing study of a healthy young adult who died suddenly. This mutation was considered suspicious since other mutations in the DCHS1 gene have been reported to cause mitral valve prolapse, although this specific mutation has not been seen before. The other mutation was rs863223797, located in the TGFB2 gene and considered pathogenic by some sources for thoracic aortic aneurysm.[PMID 26846766]
