rs17396340

This variant is located in the KIF1B gene.

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GWAS Catalog Trait Associations (4)

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

BMI-adjusted waist circumference

Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele A
OR 0.03
p 3.0e-14
N 152,914
Meta-analysisLarge GWAS
multi-ancestry

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.03
p 3.0e-11
N 219,872
Major Consortium StudyLarge GWAS
European

platelet volume

Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)
Allele A
OR 0.01
p 3.0e-8
N 18,600
Large GWAS
European

smoking behavior, BMI-adjusted waist circumference

Justice AE et al. “Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.” Nature Communications 8:14977 (2017)
Allele A
OR 0.03
p 1.0e-11
N 195,506
Meta-analysisLarge GWAS
multi-ancestry

About KIF1B

Enables plus-end-directed microtubule motor activity. Involved in apoptotic process involved in development and mitochondrion transport along microtubule. Is active in mitochondrion. Implicated in Charcot-Marie-Tooth disease type 2A1; hepatocellular carcinoma; multiple sclerosis; neuroblastoma; and ovary epithelial cancer. Biomarker of hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

View all KIF1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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