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rs3810710

From SNPedia

Merged intors2229137
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs3810710(A;C)
Make rs3810710(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19357664
GenePDHA1
is asnp
is mentioned by
dbSNPrs3810710
ebirs3810710
HLIrs3810710
Exacrs3810710
Varsomers3810710
Maprs3810710
PheGenIrs3810710
hapmaprs3810710
1000 genomesrs3810710
hgdprs3810710
ensemblrs3810710
gopubmedrs3810710
geneviewrs3810710
scholarrs3810710
googlers3810710
pharmgkbrs3810710
gwascentralrs3810710
openSNPrs3810710
23andMers3810710
23andMe allrs3810710
SNP Nexus

SNPshotrs3810710
SNPdbers3810710
MSV3drs3810710
GWAS Ctlgrs3810710
StatusMerged into rs2229137
Max Magnitude0
? (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.

OMIM300502
DescPYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
Variant0015
Relatedalso
Neighborrs28935188
Distance2271