rs12946510

This is a regulatory region variant variant.

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GWAS Catalog Trait Associations (7)

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

inflammatory bowel disease

Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele A
OR 1.14
p 2.0e-39
N 34,652
Large GWAS
multi-ancestry
Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele A
OR 1.16
p 4.0e-38
N 34,366
Large GWAS
European

Crohn's disease

Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele A
OR 1.13
p 2.0e-24
N 20,883
Large GWAS
multi-ancestry

Myasthenia gravis

Braun A et al. “Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.” Nature Communications 15(1):9839 (2024)
Allele T
OR 1.12
p 8.0e-13
N 437,736
Meta-analysisLarge GWAS
European

asthma

Herrera-Luis E et al. “Genome-wide association study reveals a novel locus for asthma with severe exacerbations in diverse populations.” Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology 32(1):106-115 (2021)
Allele C
OR 1.47
p 7.0e-11
N 3,310
Large GWAS
multi-ancestry

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.02
p 2.0e-9
N 472,730
Large GWAS
East Asian

multiple sclerosis

Beecham AH et al. “Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.” Nature Genetics 45(11):1353-60 (2013)
Allele A
OR 1.07
p 3.0e-9
N 38,589
Large GWAS
European

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

Gene information from NCBI Gene. Variant classifications from ClinVar.

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