rs562038

This variant is located in the PHGDH gene.

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GWAS Catalog Trait Associations (5)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

mean corpuscular hemoglobin concentration

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 4.0e-14
N 407,288
Major Consortium StudyLarge GWAS
European

erythrocyte count

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 2.0e-13
N 581,817
Major Consortium StudyLarge GWAS
multi-ancestry

hematocrit

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.02
p 2.0e-12
N 407,852
Major Consortium StudyLarge GWAS
European

peripheral neuropathy

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.09
p 3.0e-12
N 436,760
Major Consortium StudyLarge GWAS
European

erythrocyte volume

Thompson A et al. “Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume.” Human Molecular Genetics 30(21):2040-2051 (2021)
Allele G
OR 0.06
p 4.0e-8
N 362,595
Large GWAS
European
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ClinVar annotation

Benign★★★☆
4 submitters1 publication

PHGDH deficiency; Neu-Laxova syndrome 1; not provided

View on ClinVar →

About PHGDH

This gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known. [provided by RefSeq, Aug 2011]

View all PHGDH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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