rs118204118
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | normal |
| (A;G) | 4 | Acute Intermittent Porphyria |
| (G;G) | 4 | Porphyria, acute intermittent |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 119085034 |
| Gene | HMBS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs118204118 |
| dbSNP (classic) | rs118204118 |
| ClinGen | rs118204118 |
| ebi | rs118204118 |
| HLI | rs118204118 |
| Exac | rs118204118 |
| Gnomad | rs118204118 |
| Varsome | rs118204118 |
| LitVar | rs118204118 |
| Map | rs118204118 |
| PheGenI | rs118204118 |
| Biobank | rs118204118 |
| 1000 genomes | rs118204118 |
| hgdp | rs118204118 |
| ensembl | rs118204118 |
| geneview | rs118204118 |
| scholar | rs118204118 |
| rs118204118 | |
| pharmgkb | rs118204118 |
| gwascentral | rs118204118 |
| openSNP | rs118204118 |
| 23andMe | rs118204118 |
| SNPshot | rs118204118 |
| SNPdbe | rs118204118 |
| MSV3d | rs118204118 |
| GWAS Ctlg | rs118204118 |
| Max Magnitude | 4 |
| ClinVar | |
|---|---|
| Risk | Rs118204118(G;G) |
| Alt | Rs118204118(G;G) |
| Reference | Rs118204118(A;A) |
| Significance | Pathogenic |
| Disease | Porphyria |
| Variation | info |
| Gene | HMBS |
| CLNDBN | Porphyria, acute intermittent, nonerythroid variant |
| Reversed | 0 |
| HGVS | NC_000011.9:g.118955744A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001549.2, |
