rs3970551

This variant is located in the PRODH gene.

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GWAS Catalog Trait Associations (5)

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

proline level

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)

Allele G

OR 32.00

p 1.0e-224

N 30,985

Large GWAS

European

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)

Allele G

OR 0.47

p 5.0e-180

N 14,296

Large GWAS

European

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)

Allele G

OR —

p 1.0e-34

N 239,268

Large GWAS

European

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)

Allele A

OR 0.57

p 2.0e-25

N 3,926

Large GWAS

Hispanic or Latin American

platelet count

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele G

OR —

p 2.0e-14

N 721,201

Large GWAS

multi-ancestry

polyunsaturated fatty acids to monounsaturated fatty acids ratio

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)

Allele G

OR —

p 5.0e-12

N 110,346

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

About PRODH

This gene encodes a mitochondrial protein that catalyzes the first step in proline degradation. Mutations in this gene are associated with hyperprolinemia type 1 and susceptibility to schizophrenia 4 (SCZD4). This gene is located on chromosome 22q11.21, a region which has also been associated with the contiguous gene deletion syndromes, DiGeorge and CATCH22. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]

rs3970551

GWAS Catalog Trait Associations (5)

proline level

fatty acid amount

serum metabolite level

platelet count

polyunsaturated fatty acids to monounsaturated fatty acids ratio

ClinVar annotation

About PRODH

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