Rs118204108
From SNPedia
| Orientation | plus |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118204108 |
| PheGenI | rs118204108 |
| nextbio | rs118204108 |
| hapmap | rs118204108 |
| 1000 genomes | rs118204108 |
| hgdp | rs118204108 |
| ensembl | rs118204108 |
| gopubmed | rs118204108 |
| geneview | rs118204108 |
| scholar | rs118204108 |
| rs118204108 | |
| pharmgkb | rs118204108 |
| gwascentral | rs118204108 |
| openSNP | rs118204108 |
| 23andMe | rs118204108 |
| 23andMe all | rs118204108 |
| SNP Nexus | |
| SNPshot | rs118204108 |
| SNPdbe | rs118204108 |
| MSV3d | rs118204108 |
| Gene | HMBS |
| Chromosome | 11 |
| Orientation | plus |
| Position | 118962154 |
| Reference | GRCh37 37.1/132 |
| Max Magnitude | 5 |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 5 | Porphyria, acute intermittent |
| (G;T) | 4 | Porphyria, acute intermittent |
| (T;T) | 0 | common in clinvar |
| ClinVar | |
|---|---|
| Risk | rs118204108(G;G) |
| Normal | rs118204108(T;T) |
| Significance | 5 |
| Disease | Acute intermittent porphyria |
| ClinVar | info |
| Gene | HMBS |
| CLNDBN | Acute intermittent porphyria |
| Reversed | 0 |
| CLNHGVS | NC_000011.9:g.118962154T>G |
| CLNSRC | OMIM Allelic Variant |