rs1154510
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 0.5 | likely to be benign |
| (C;C) | 0 | |
| (G;G) | 0 | common in complete genomics |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 121857429 |
| Gene | HPD, LOC105370035 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1154510 |
| dbSNP (classic) | rs1154510 |
| ClinGen | rs1154510 |
| ebi | rs1154510 |
| HLI | rs1154510 |
| Exac | rs1154510 |
| Gnomad | rs1154510 |
| Varsome | rs1154510 |
| LitVar | rs1154510 |
| Map | rs1154510 |
| PheGenI | rs1154510 |
| Biobank | rs1154510 |
| 1000 genomes | rs1154510 |
| hgdp | rs1154510 |
| ensembl | rs1154510 |
| geneview | rs1154510 |
| scholar | rs1154510 |
| rs1154510 | |
| pharmgkb | rs1154510 |
| gwascentral | rs1154510 |
| openSNP | rs1154510 |
| 23andMe | rs1154510 |
| SNPshot | rs1154510 |
| SNPdbe | rs1154510 |
| MSV3d | rs1154510 |
| GWAS Ctlg | rs1154510 |
| GMAF | 0.1322 |
| Max Magnitude | 0.5 |
rs1154510, also known as c.97G>A, p.Ala33Thr and A33T, represents a SNP in the HPD gene on chromosome 12.
Although the rs1154510(A) minor allele is listed in ClinVar as pathogenic as a dominant mutation leading to hawkinsinuria, this seems quite unlikely given that the frequency of this minor allele is around 10 - 15% in most populations.
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | Rs1154510(G;G) |
| Alt | Rs1154510(G;G) |
| Reference | Rs1154510(A;A) |
| Significance | Pathogenic |
| Disease | 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency |
| Variation | info |
| Gene | HPD |
| CLNDBN | 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency |
| Reversed | 1 |
| HGVS | NC_000012.11:g.122295335T\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001643.2, |
