rs730469
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs730469(C;C) |
| Make rs730469(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 5622943 |
| Gene | EVC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730469 |
| dbSNP (classic) | rs730469 |
| ClinGen | rs730469 |
| ebi | rs730469 |
| HLI | rs730469 |
| Exac | rs730469 |
| Gnomad | rs730469 |
| Varsome | rs730469 |
| LitVar | rs730469 |
| Map | rs730469 |
| PheGenI | rs730469 |
| Biobank | rs730469 |
| 1000 genomes | rs730469 |
| hgdp | rs730469 |
| ensembl | rs730469 |
| geneview | rs730469 |
| scholar | rs730469 |
| rs730469 | |
| pharmgkb | rs730469 |
| gwascentral | rs730469 |
| openSNP | rs730469 |
| 23andMe | rs730469 |
| SNPshot | rs730469 |
| SNPdbe | rs730469 |
| MSV3d | rs730469 |
| GWAS Ctlg | rs730469 |
| GMAF | 0.4972 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs730469(C;C) |
| Alt | rs730469(C;C) |
| Reference | Rs730469(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified Ellis-van Creveld Syndrome |
| Variation | info |
| Gene | EVC2 |
| CLNDBN | not specified Ellis-van Creveld Syndrome |
| Reversed | 0 |
| HGVS | NC_000004.11:g.5624670T>C |
| CLNSRC | |
| CLNACC | RCV000250571.2, RCV000349643.1, |
