rs79661516
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs79661516(A;A) |
| Make rs79661516(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43105018 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs79661516 |
| dbSNP (classic) | rs79661516 |
| ClinGen | rs79661516 |
| ebi | rs79661516 |
| HLI | rs79661516 |
| Exac | rs79661516 |
| Gnomad | rs79661516 |
| Varsome | rs79661516 |
| LitVar | rs79661516 |
| Map | rs79661516 |
| PheGenI | rs79661516 |
| Biobank | rs79661516 |
| 1000 genomes | rs79661516 |
| hgdp | rs79661516 |
| ensembl | rs79661516 |
| geneview | rs79661516 |
| scholar | rs79661516 |
| rs79661516 | |
| pharmgkb | rs79661516 |
| gwascentral | rs79661516 |
| openSNP | rs79661516 |
| 23andMe | rs79661516 |
| SNPshot | rs79661516 |
| SNPdbe | rs79661516 |
| MSV3d | rs79661516 |
| GWAS Ctlg | rs79661516 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs79661516(A;A) |
| Alt | rs79661516(A;A) |
| Reference | Rs79661516(G;G) |
| Significance | Other |
| Disease | Hirschsprung disease 1 |
| Variation | info |
| Gene | RET |
| CLNDBN | Hirschsprung disease 1 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43600466G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014964.2, |
[PMID 9700200] Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease.
