rs1383180
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1383180(C;T) |
| Make rs1383180(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 5783715 |
| Gene | EVC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1383180 |
| dbSNP (classic) | rs1383180 |
| ClinGen | rs1383180 |
| ebi | rs1383180 |
| HLI | rs1383180 |
| Exac | rs1383180 |
| Gnomad | rs1383180 |
| Varsome | rs1383180 |
| LitVar | rs1383180 |
| Map | rs1383180 |
| PheGenI | rs1383180 |
| Biobank | rs1383180 |
| 1000 genomes | rs1383180 |
| hgdp | rs1383180 |
| ensembl | rs1383180 |
| geneview | rs1383180 |
| scholar | rs1383180 |
| rs1383180 | |
| pharmgkb | rs1383180 |
| gwascentral | rs1383180 |
| openSNP | rs1383180 |
| 23andMe | rs1383180 |
| SNPshot | rs1383180 |
| SNPdbe | rs1383180 |
| MSV3d | rs1383180 |
| GWAS Ctlg | rs1383180 |
| GMAF | 0.3361 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 19115052] male suicidal behavior rs1383180
[PMID 18947413
] Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
[PMID 26251756] EVC gene polymorphisms and risks of isolated hypospadias - a preliminary study
| ClinVar | |
|---|---|
| Risk | rs1383180(A;A) rs1383180(T;T) |
| Alt | rs1383180(A;A) rs1383180(T;T) |
| Reference | Rs1383180(C;C) |
| 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.5785442G>A |
| CLNSRC | |
| CLNACC | RCV000254232.2, RCV000315414.1, RCV000369969.1, |
