rs768737101
From SNPedia
| Mitral Valve Prolapse |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3.5 | Mitral valve prolapse |
| (G;G) | 0 | common/normal |
| Make rs768737101(A;A) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 6625356 |
| Gene | DCHS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs768737101 |
| dbSNP (classic) | rs768737101 |
| ClinGen | rs768737101 |
| ebi | rs768737101 |
| HLI | rs768737101 |
| Exac | rs768737101 |
| Gnomad | rs768737101 |
| Varsome | rs768737101 |
| LitVar | rs768737101 |
| Map | rs768737101 |
| PheGenI | rs768737101 |
| Biobank | rs768737101 |
| 1000 genomes | rs768737101 |
| hgdp | rs768737101 |
| ensembl | rs768737101 |
| geneview | rs768737101 |
| scholar | rs768737101 |
| rs768737101 | |
| pharmgkb | rs768737101 |
| gwascentral | rs768737101 |
| openSNP | rs768737101 |
| 23andMe | rs768737101 |
| SNPshot | rs768737101 |
| SNPdbe | rs768737101 |
| MSV3d | rs768737101 |
| GWAS Ctlg | rs768737101 |
| Max Magnitude | 3.5 |
rs768737101, also known as c.6988C>T, p.Arg2330Cys and R2330C, is a mutation in the DCHS1 gene on chromosome 11.
Sequencing a family with several members affected by mitral valve prolapse (MVP) lead to the discovery of the rare rs768737101 mutation. Acting as an autosomal dominant, the rs768737101(A) allele was reported to be a causative mutation for MVP.[PMID 26258302
]
| ClinVar | |
|---|---|
| Risk | rs768737101(A;A) |
| Alt | rs768737101(A;A) |
| Reference | Rs768737101(G;G) |
| Significance | Pathogenic |
| Disease | Mitral valve prolapse 2 |
| Variation | info |
| Gene | DCHS1 |
| CLNDBN | Mitral valve prolapse 2 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.6646587G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000201937.2, |
