rs1057518806
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common/normal |
| Make rs1057518806(-;-) |
| Make rs1057518806(-;G) |
| Chromosome | 11 |
| Position | 119093155 |
| Gene | HMBS |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1057518806 |
| dbSNP (classic) | rs1057518806 |
| ClinGen | rs1057518806 |
| ebi | rs1057518806 |
| HLI | rs1057518806 |
| Exac | rs1057518806 |
| Gnomad | rs1057518806 |
| Varsome | rs1057518806 |
| LitVar | rs1057518806 |
| Map | rs1057518806 |
| PheGenI | rs1057518806 |
| Biobank | rs1057518806 |
| 1000 genomes | rs1057518806 |
| hgdp | rs1057518806 |
| ensembl | rs1057518806 |
| geneview | rs1057518806 |
| scholar | rs1057518806 |
| rs1057518806 | |
| pharmgkb | rs1057518806 |
| gwascentral | rs1057518806 |
| openSNP | rs1057518806 |
| 23andMe | rs1057518806 |
| SNPshot | rs1057518806 |
| SNPdbe | rs1057518806 |
| MSV3d | rs1057518806 |
| GWAS Ctlg | rs1057518806 |
| Max Magnitude | 0 |
c.958delG (p.Ala320Leufs)
reported as likely pathogenic in ClinVar, in gene associated with acute intermittent porphyria
| ClinVar | |
|---|---|
| Risk | rs1057518806(-;-) |
| Alt | rs1057518806(-;-) |
| Reference | Rs1057518806(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Abdominal pain Acute episodes of neuropathic symptoms Anxiety Elevated urinary delta-aminolevulinic acid |
| Variation | info |
| Gene | HMBS |
| CLNDBN | Abdominal pain Acute episodes of neuropathic symptoms Anxiety Elevated urinary delta-aminolevulinic acid |
| Reversed | 0 |
| HGVS | NC_000011.9:g.118963865delG |
| CLNSRC | |
| CLNACC | RCV000415138.1, |
