rs4970836
This variant is located in the PSRC1 gene.
▶GWAS Catalog Trait Associations (32)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (32)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
total cholesterol measurement
Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.13
p —
N 928,679
Large GWAS
multi-ancestry
high affinity immunoglobulin alpha and immunoglobulin mu Fc receptor measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.13
p 4.0e-89
N 47,745
Large GWAS
European
group XIIB secretory phospholipase A2-like protein measurement
Allele A
OR 0.42
p 4.0e-48
N 3,301
Large GWAS
European
cholesteryl esters:total lipids ratio, blood VLDL cholesterol amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.06
p 6.0e-37
N 136,016
Large GWAS
multi-ancestry
phospholipids in medium HDL measurement
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele G
OR 0.05
p 3.0e-25
N 88,329
Large GWAS
European
cholesteryl esters:total lipids ratio, blood VLDL cholesterol amount, chylomicron amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.05
p 8.0e-25
N 126,671
Large GWAS
multi-ancestry
free cholesterol:total lipids ratio, blood VLDL cholesterol amount
Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.05
p 4.0e-24
N 136,016
Large GWAS
multi-ancestry
stanniocalcin-1 measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.15
p 1.0e-21
N 10,708
Large GWAS
European
total lipids in medium HDL measurement
Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)
Allele G
OR 0.05
p 8.0e-19
N 88,329
Large GWAS
European
diastolic blood pressure change measurement
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 0.03
p 2.0e-18
N 425,743
Major Consortium StudyLarge GWAS
European
About PSRC1
This gene encodes a proline-rich protein that is a target for regulation by the tumor suppressor protein p53. The encoded protein plays an important role in mitosis by recruiting and regulating microtubule depolymerases that destabalize microtubules. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Apr 2014]
View all PSRC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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