rs2302075
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (G;G) | 0 | common in clinvar |
| Make rs2302075(G;T) |
| Make rs2302075(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 5753815 |
| Gene | EVC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2302075 |
| dbSNP (classic) | rs2302075 |
| ClinGen | rs2302075 |
| ebi | rs2302075 |
| HLI | rs2302075 |
| Exac | rs2302075 |
| Gnomad | rs2302075 |
| Varsome | rs2302075 |
| LitVar | rs2302075 |
| Map | rs2302075 |
| PheGenI | rs2302075 |
| Biobank | rs2302075 |
| 1000 genomes | rs2302075 |
| hgdp | rs2302075 |
| ensembl | rs2302075 |
| geneview | rs2302075 |
| scholar | rs2302075 |
| rs2302075 | |
| pharmgkb | rs2302075 |
| gwascentral | rs2302075 |
| openSNP | rs2302075 |
| 23andMe | rs2302075 |
| SNPshot | rs2302075 |
| SNPdbe | rs2302075 |
| MSV3d | rs2302075 |
| GWAS Ctlg | rs2302075 |
| GMAF | 0.1662 |
| Max Magnitude | 0 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 18947413
] Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
| ClinVar | |
|---|---|
| Risk | Rs2302075(A;A) rs2302075(T;T) |
| Alt | Rs2302075(A;A) rs2302075(T;T) |
| Reference | Rs2302075(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Ellis-van Creveld Syndrome Curry-Hall syndrome |
| Variation | info |
| Gene | EVC |
| CLNDBN | not specified Ellis-van Creveld Syndrome Curry-Hall syndrome |
| Reversed | 1 |
| HGVS | NC_000004.11:g.5755542C>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000153204.5, RCV000360127.1, RCV000390155.1, |
[PMID 26251756] EVC gene polymorphisms and risks of isolated hypospadias - a preliminary study
