rs4240624

This variant is located in the LOC157273 gene.

▶

GWAS Catalog Trait Associations (73)

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

glycine measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.13
p —
N 450,015
Large GWAS
multi-ancestry
Abar L et al. “Unravelling genetic architecture of circulatory amino acid levels, and their effect on risk of complex disorders.” Nar Genomics and Bioinformatics 6(2):lqae046 (2024)
Allele A
OR 0.12
p 1.0e-90
N 117,944
Large GWAS
European
Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)
Allele A
OR 0.13
p 3.0e-78
N 114,978
Large GWAS
European
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 A
OR 0.14
p 3.0e-67
N 88,258
Large GWAS
European
Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.25
p 4.0e-24
N 6,136
Large GWAS
European

alkaline phosphatase measurement

Pazoki R et al. “Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.” Nature Communications 12(1):2579 (2021)
Allele G
OR 0.02
p 2.0e-308
N 437,438
Large GWAS
European

cholesteryl esters in small HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.12
p 2.0e-250
N 450,015
Large GWAS
multi-ancestry

cholesterol in small HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.11
p 4.0e-240
N 450,015
Large GWAS
multi-ancestry

concentration of small HDL particles measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.11
p 5.0e-219
N 450,015
Large GWAS
multi-ancestry

total lipids in small HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.10
p 1.0e-180
N 450,015
Large GWAS
multi-ancestry
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 A
OR 0.09
p 2.0e-25
N 88,329
Large GWAS
European

total lipids in medium HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.09
p 2.0e-175
N 450,015
Large GWAS
multi-ancestry
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 A
OR 0.10
p 5.0e-35
N 88,329
Large GWAS
European

phospholipids in small HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.10
p 2.0e-169
N 450,015
Large GWAS
multi-ancestry
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 A
OR 0.09
p 5.0e-24
N 88,329
Large GWAS
European

phospholipids in medium HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.09
p 1.0e-163
N 450,015
Large GWAS
multi-ancestry
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 A
OR 0.10
p 7.0e-32
N 88,329
Large GWAS
European

total lipids in IDL

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.07
p 6.0e-83
N 450,015
Large GWAS
multi-ancestry
▶

Research that mentions this SNP (2)

▶
Patatin-like phospholipase domain-containing 3 I148M affects liver steatosis in patients with chronic hepatitis B
ReviewMauro Viganò et al.(2013)· Hepatology

This comprehensive review examines the genetic background of nonalcoholic fatty liver disease (NAFLD), focusing on variants identified by genome-wide association studies (GWAS) and candidate gene studies. The most significant GWAS-identified variants are PNPLA3 rs738409 (I148M), which strongly associates with increased liver steatosis, fibrosis severity, and HCC risk (12-fold increased risk for homozygous carriers), and TM6SF2 rs58542926 (E167K), which increases NASH progression but reduces cardiovascular risk. The review also discusses numerous candidate genes involved in lipid and glucose metabolism and liver injury mechanisms.

Traits studied:Cardiovascular diseaseChronic kidney diseaseCirrhosisHepatic injuryHepatic steatosisHepatocellular carcinomaInsulin resistanceLipid metabolismLiver fibrosisMetabolic syndromeNecroinflammationNonalcoholic fatty liver disease (NAFLD)Nonalcoholic steatohepatitis (NASH)ObesityType 2 diabetes
PubMedDOIMetascience Observatory
▶
Dissociation betweenAPOC3variants, hepatic triglyceride content and insulin resistance
ReviewJulia Kozlitina et al.(2011)· Hepatology

Comprehensive review of genetic background in nonalcoholic fatty liver disease (NAFLD). The PNPLA3 I148M variant (rs738409 C>G) is identified as a major genetic player strongly associated with increased liver fat content, NASH development, fibrosis severity, and HCC risk. The TM6SF2 E167K variant (rs58542926) emerges as another key contributor to NAFLD pathogenesis and disease progression. Multiple additional GWAS-identified variants and candidate genes are reviewed for their roles in NAFLD susceptibility and progression.

Traits studied:Alcoholic liver diseaseCardiovascular diseaseChronic kidney diseaseHCCHepatic steatosisHepatic triglyceridesHepatitis B steatosisHepatitis C progressionHepatocellular carcinomaInsulin resistanceLipid metabolismLiver fat contentLiver fibrosisNAFLDNASHNecroinflammationNonalcoholic fatty liver diseaseNonalcoholic steatohepatitisType 2 diabetes
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…