rs2015599

This is a regulatory region variant variant in the FAR2 gene.

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GWAS Catalog Trait Associations (5)

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

platelet count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.04
p 2.0e-98
N 499,097
Large GWAS
multi-ancestry
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele A
OR 0.04
p 4.0e-34
N 166,066
Large GWAS
European

Thrombocytopenia

Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)
Allele A
OR 1.11
p 3.0e-11
N 96,432
Large GWAS
East Asian

mitochondrial DNA measurement

Chong M et al. “GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.” Elife 11 (2022)
Allele A
OR 0.01
p 6.0e-9
N 395,718
Large GWAS
European, South Asian, African unspecified

platelet quantity

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.07
p 9.0e-17
N 29,678
Large GWAS
European

platelet volume

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele G
OR 0.07
p 1.0e-314
N 460,935
Large GWAS
European
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele G
OR 0.07
p 5.0e-94
N 164,454
Large GWAS
European
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 0.04
p 2.0e-15
N 97,007
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)
Allele G
OR 0.01
p 6.0e-16
N 18,600
Large GWAS
European

About FAR2

This gene belongs to the short chain dehydrogenase/reductase superfamily. It encodes a reductase enzyme involved in the first step of wax biosynthesis wherein fatty acids are converted to fatty alcohols. The encoded peroxisomal protein utilizes saturated fatty acids of 16 or 18 carbons as preferred substrates. Alternatively spliced transcript variants have been observed for this gene. Related pseudogenes have been identified on chromosomes 2, 14 and 22. [provided by RefSeq, Nov 2012]

View all FAR2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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