rs11940694

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

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GWAS Catalog Trait Associations (21)

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

bitter alcoholic beverage consumption measurement

Zhong VW et al. “A genome-wide association study of bitter and sweet beverage consumption.” Human Molecular Genetics 28(14):2449-2457 (2019)
Allele G
OR 0.01
p 4.0e-33
N 336,448
Large GWAS
European

serum gamma-glutamyl transferase 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 A
OR 0.01
p 3.0e-23
N 437,194
Large GWAS
European

alcohol-related disorders

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 A
OR 0.05
p 5.0e-22
N 427,984
Major Consortium StudyLarge GWAS
European

alcohol use disorder measurement

Sanchez-Roige S et al. “Genome-Wide Association Study Meta-Analysis of the Alcohol Use Disorders Identification Test (AUDIT) in Two Population-Based Cohorts.” The American Journal of Psychiatry 176(2):107-118 (2019)
Allele A
OR 9.38
p 7.0e-21
N 141,932
Meta-analysisLarge GWAS
European

saturated fatty acids to total fatty acids percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 3.0e-18
N 450,015
Large GWAS
multi-ancestry

gout

Major TJ et al. “A genome-wide association analysis reveals new pathogenic pathways in gout.” Nature Genetics 56(11):2392-2406 (2024)
Allele A
OR 0.96
p 2.0e-13
N 1,011,521
Large GWAS
European

polyunsaturated fatty acids to monounsaturated fatty acids ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.01
p 9.0e-12
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 G
OR 0.01
p 1.0e-11
N 450,015
Large GWAS
multi-ancestry

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 G
OR 0.01
p 4.0e-11
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 G
OR 0.01
p 8.0e-11
N 450,015
Large GWAS
multi-ancestry

About KLB

Enables fibroblast growth factor binding activity and fibroblast growth factor receptor binding activity. Predicted to be involved in carbohydrate metabolic process. Predicted to act upstream of or within positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway and positive regulation of cell population proliferation. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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