{{Rsnum
|rsid = 3810710
|Gene = PDHA1
|geno1 = (A;A)
|geno2 = (A;C)
|geno3 = (C;C)
|effect1 = 
|effect2 = 
|effect3 = 
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|Chromosome=X
|position=19357664
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Status=Merged
|Merged=2229137
|Gene_s=PDHA1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 68.9 | 22.2 | 8.9
| JPT | 63.6 | 25.0 | 11.4
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 68.9 | 22.2 | 8.9
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=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.

{{omim
| id = 300502
| variant = 0015
| desc    = PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
| rsnum   = 3810710
}}

{{ neighbor
| rsid = 28935188
| distance = 2271
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}