rs11570255
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs11570255(A;A) |
| Make rs11570255(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 59300861 |
| Gene | EDN3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11570255 |
| dbSNP (classic) | rs11570255 |
| ClinGen | rs11570255 |
| ebi | rs11570255 |
| HLI | rs11570255 |
| Exac | rs11570255 |
| Gnomad | rs11570255 |
| Varsome | rs11570255 |
| LitVar | rs11570255 |
| Map | rs11570255 |
| PheGenI | rs11570255 |
| Biobank | rs11570255 |
| 1000 genomes | rs11570255 |
| hgdp | rs11570255 |
| ensembl | rs11570255 |
| geneview | rs11570255 |
| scholar | rs11570255 |
| rs11570255 | |
| pharmgkb | rs11570255 |
| gwascentral | rs11570255 |
| openSNP | rs11570255 |
| 23andMe | rs11570255 |
| SNPshot | rs11570255 |
| SNPdbe | rs11570255 |
| MSV3d | rs11570255 |
| GWAS Ctlg | rs11570255 |
| GMAF | 0.00551 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs11570255(A;A) rs11570255(T;T) |
| Alt | rs11570255(A;A) rs11570255(T;T) |
| Reference | Rs11570255(G;G) |
| Significance | Other |
| Disease | Hirschsprung disease 4 not specified Hirschsprung Disease |
| Variation | info |
| Gene | EDN3 |
| CLNDBN | Hirschsprung disease 4 not specified Hirschsprung Disease, Dominant |
| Reversed | 0 |
| HGVS | NC_000020.10:g.57875916G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000018126.3, RCV000222596.1, RCV000382674.1, |
