rs3810710
From SNPedia
| Merged into | rs2229137 |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 |
| Make rs3810710(A;C) |
| Make rs3810710(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 19357664 |
| Gene | PDHA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3810710 |
| dbSNP (classic) | rs3810710 |
| ClinGen | rs3810710 |
| ebi | rs3810710 |
| HLI | rs3810710 |
| Exac | rs3810710 |
| Gnomad | rs3810710 |
| Varsome | rs3810710 |
| LitVar | rs3810710 |
| Map | rs3810710 |
| PheGenI | rs3810710 |
| Biobank | rs3810710 |
| 1000 genomes | rs3810710 |
| hgdp | rs3810710 |
| ensembl | rs3810710 |
| geneview | rs3810710 |
| scholar | rs3810710 |
| rs3810710 | |
| pharmgkb | rs3810710 |
| gwascentral | rs3810710 |
| openSNP | rs3810710 |
| 23andMe | rs3810710 |
| SNPshot | rs3810710 |
| SNPdbe | rs3810710 |
| MSV3d | rs3810710 |
| GWAS Ctlg | rs3810710 |
| Status | Merged into rs2229137 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
A (G) form of this SNP, located in exon 9 of the PDHA1 gene, has been observed in patients with pyruvate dehydrogenase E1 alpha deficiency [PMID 8032855]. Deficiences in the PDHA gene may lead, to varying degrees, to lactic acidosis and/or neurological problems. [OMIM 312170, OMIM 300502]
The traditional treatment [PMID 824610] for pyruvate deficiencies is a ketogenic diet, a type of diet very high in fat while low in carbohydrates. Medical supervision is considered essential.
