rs7617480

This is a regulatory region variant variant in the KLHDC8B gene.

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GWAS Catalog Trait Associations (7)

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

major depressive disorder

Als TD et al. “Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses.” Nature Medicine 29(7):1832-1844 (2023)
Allele A
OR 0.03
p 3.0e-17
N 1,349,887
Large GWAS
European
Meng X et al. “Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference.” Nature Genetics 56(2):222-233 (2024)
Allele A
OR 0.03
p 5.0e-12
N 1,820,689
Large GWAS
multi-ancestry

smoking cessation

Liu M et al. “Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.” Nature Genetics 51(2):237-244 (2019)
Allele C
OR 0.03
p 2.0e-12
N 547,219
Large GWAS
European

insomnia

Watanabe K et al. “Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways.” Nature Genetics 54(8):1125-1132 (2022)
Allele A
OR 0.01
p 1.0e-11
N 2,365,010
Meta-analysisLarge GWAS
European

mood disorder

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 0.03
p 1.0e-11
N 601,558
Major Consortium StudyLarge GWAS
multi-ancestry

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.01
p 7.0e-9
N 1,122,049
Large GWAS
European

wellbeing measurement

Turley P et al. “Multi-trait analysis of genome-wide association summary statistics using MTAG.” Nature Genetics 50(2):229-237 (2018)
Allele C
OR 0.01
p 9.0e-9
N 388,538
Large GWAS
European

age at menarche

Elks CE et al. “Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.” Nature Genetics 42(12):1077-85 (2010)
Allele A
OR 2.40
p 3.0e-8
N 87,802
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status
AssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

Traits studied:Breast cancerBreast cancer riskER+/PR+ breast cancerER/PR negative breast cancerTriple negative breast cancer
PubMedDOIMetascience Observatory

About KLHDC8B

This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]

View all KLHDC8B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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