rs2742234
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs2742234(C;C) |
| Make rs2742234(C;T) |
| Make rs2742234(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 43117161 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2742234 |
| dbSNP (classic) | rs2742234 |
| ClinGen | rs2742234 |
| ebi | rs2742234 |
| HLI | rs2742234 |
| Exac | rs2742234 |
| Gnomad | rs2742234 |
| Varsome | rs2742234 |
| LitVar | rs2742234 |
| Map | rs2742234 |
| PheGenI | rs2742234 |
| Biobank | rs2742234 |
| 1000 genomes | rs2742234 |
| hgdp | rs2742234 |
| ensembl | rs2742234 |
| geneview | rs2742234 |
| scholar | rs2742234 |
| rs2742234 | |
| pharmgkb | rs2742234 |
| gwascentral | rs2742234 |
| openSNP | rs2742234 |
| 23andMe | rs2742234 |
| SNPshot | rs2742234 |
| SNPdbe | rs2742234 |
| MSV3d | rs2742234 |
| GWAS Ctlg | rs2742234 |
| GMAF | 0.3058 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 19196962 ]
|
| Trait | Hirschsprung's disease |
| Title | Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease |
| Risk Allele | T |
| P-val | 4E-18 |
| Odds Ratio | NR NR |
[PMID 20532249] Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.
