rs118204099
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 5 | Porphyria, acute intermittent |
| (G;T) | 4 | Acute intermittent porphyria |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 119092486 |
| Gene | HMBS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118204099 |
| dbSNP (classic) | rs118204099 |
| ClinGen | rs118204099 |
| ebi | rs118204099 |
| HLI | rs118204099 |
| Exac | rs118204099 |
| Gnomad | rs118204099 |
| Varsome | rs118204099 |
| LitVar | rs118204099 |
| Map | rs118204099 |
| PheGenI | rs118204099 |
| Biobank | rs118204099 |
| 1000 genomes | rs118204099 |
| hgdp | rs118204099 |
| ensembl | rs118204099 |
| geneview | rs118204099 |
| scholar | rs118204099 |
| rs118204099 | |
| pharmgkb | rs118204099 |
| gwascentral | rs118204099 |
| openSNP | rs118204099 |
| 23andMe | rs118204099 |
| SNPshot | rs118204099 |
| SNPdbe | rs118204099 |
| MSV3d | rs118204099 |
| GWAS Ctlg | rs118204099 |
| Max Magnitude | 5 |
| ClinVar | |
|---|---|
| Risk | Rs118204099(G;G) |
| Alt | Rs118204099(G;G) |
| Reference | Rs118204099(T;T) |
| Significance | Pathogenic |
| Disease | Acute intermittent porphyria |
| Variation | info |
| Gene | HMBS |
| CLNDBN | Acute intermittent porphyria |
| Reversed | 0 |
| HGVS | NC_000011.9:g.118963196T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001515.2, |
