rs483180

This is a regulatory region variant variant in the PHGDH gene.

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GWAS Catalog Trait Associations (3)

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

multiple sclerosis

“Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.” Science (new York, N.y.) 365(6460) (2019)
Allele C
OR 1.09
p 1.0e-17
N 41,505
Large GWAS
multi-ancestry

macular telangiectasia type 2

Scerri TS et al. “Genome-wide analyses identify common variants associated with macular telangiectasia type 2.” Nature Genetics 49(4):559-567 (2017)
Allele G
OR 1.67
p 2.0e-14
N 2,209
Large GWAS
European

hemoglobin measurement

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.02
p 3.0e-11
N 408,112
Large GWAS
European

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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