rs75075748
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs75075748(C;C) |
| Make rs75075748(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 43118381 |
| Gene | RET |
| is a | snp |
| is | mentioned by |
| dbSNP | rs75075748 |
| dbSNP (classic) | rs75075748 |
| ClinGen | rs75075748 |
| ebi | rs75075748 |
| HLI | rs75075748 |
| Exac | rs75075748 |
| Gnomad | rs75075748 |
| Varsome | rs75075748 |
| LitVar | rs75075748 |
| Map | rs75075748 |
| PheGenI | rs75075748 |
| Biobank | rs75075748 |
| 1000 genomes | rs75075748 |
| hgdp | rs75075748 |
| ensembl | rs75075748 |
| geneview | rs75075748 |
| scholar | rs75075748 |
| rs75075748 | |
| pharmgkb | rs75075748 |
| gwascentral | rs75075748 |
| openSNP | rs75075748 |
| 23andMe | rs75075748 |
| SNPshot | rs75075748 |
| SNPdbe | rs75075748 |
| MSV3d | rs75075748 |
| GWAS Ctlg | rs75075748 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs75075748(C;C) |
| Alt | rs75075748(C;C) |
| Reference | Rs75075748(T;T) |
| Significance | Other |
| Disease | Hirschsprung disease 1 |
| Variation | info |
| Gene | RET |
| CLNDBN | Hirschsprung disease 1 |
| Reversed | 0 |
| HGVS | NC_000010.10:g.43613829T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014921.2, |
