Rs11570351
From SNPedia
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11570351 |
| PheGenI | rs11570351 |
| nextbio | rs11570351 |
| hapmap | rs11570351 |
| 1000 genomes | rs11570351 |
| hgdp | rs11570351 |
| ensembl | rs11570351 |
| gopubmed | rs11570351 |
| geneview | rs11570351 |
| scholar | rs11570351 |
| rs11570351 | |
| pharmgkb | rs11570351 |
| gwascentral | rs11570351 |
| openSNP | rs11570351 |
| 23andMe | rs11570351 |
| 23andMe all | rs11570351 |
| SNP Nexus | |
| SNPshot | rs11570351 |
| SNPdbe | rs11570351 |
| MSV3d | rs11570351 |
| Gene | EDN3 |
| Chromosome | 20 |
| Orientation | plus |
| Position | 57899467 |
| Reference | GRCh37 37.1/131 |
| Max Magnitude | 0 |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common on affy axiom data |
| Make rs11570351(A;A) |
| Make rs11570351(A;G) |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
| ClinVar | |
|---|---|
| Risk | rs11570351(A;A) |
| Normal | rs11570351(G;G) |
| Significance | 255 |
| Disease | Hirschsprung disease 4 |
| ClinVar | info |
| Gene | EDN3 |
| CLNDBN | Hirschsprung disease 4 |
| Reversed | 0 |
| CLNHGVS | NC_000020.10:g.57899467G>A |
| CLNSRC | OMIM Allelic Variant |
| GET Evidence | |
|---|---|
| EDN3-A224T | |
| aa_change | Ala224Thr |
| aa_change_short | A224T |
| impact | pathogenic |
| qualified_impact | Insufficiently evaluated pathogenic |
| overall_frequency | 0.00176613 |
| summary | Found heterozygously in one patient with Hirschsprung disease, potentially causes increased susceptibility. The gene is associated with this disease but evidence is weak. |
