rs794726665
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier for an Ellis-van Creveld mutation |
| (T;T) | 7 | Ellis-van Creveld syndrome |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 4 |
| Position | 5793722 |
| Gene | EVC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794726665 |
| dbSNP (classic) | rs794726665 |
| ClinGen | rs794726665 |
| ebi | rs794726665 |
| HLI | rs794726665 |
| Exac | rs794726665 |
| Gnomad | rs794726665 |
| Varsome | rs794726665 |
| LitVar | rs794726665 |
| Map | rs794726665 |
| PheGenI | rs794726665 |
| Biobank | rs794726665 |
| 1000 genomes | rs794726665 |
| hgdp | rs794726665 |
| ensembl | rs794726665 |
| geneview | rs794726665 |
| scholar | rs794726665 |
| rs794726665 | |
| pharmgkb | rs794726665 |
| gwascentral | rs794726665 |
| openSNP | rs794726665 |
| 23andMe | rs794726665 |
| SNPshot | rs794726665 |
| SNPdbe | rs794726665 |
| MSV3d | rs794726665 |
| GWAS Ctlg | rs794726665 |
| Max Magnitude | 7 |
rs794726665, also known as c.1886+5G>T, represents a rare variant in the EVC gene location on chromosome 4.
The rs794726665(T) mutation, considered pathogenic for Ellis-van Creveld syndrome when inherited recessively, is considered a founder mutation among the Amish and indigenous populations of Western Australia.
| ClinVar | |
|---|---|
| Risk | Rs794726665(T;T) |
| Alt | Rs794726665(T;T) |
| Reference | Rs794726665(G;G) |
| Significance | Pathogenic |
| Disease | Chondroectodermal dysplasia not provided |
| Variation | info |
| Gene | EVC |
| CLNDBN | Chondroectodermal dysplasia not provided |
| Reversed | 0 |
| HGVS | NC_000004.11:g.5795449G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005666.4, RCV000438781.1, |
