rs72928038

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GWAS Catalog Trait Associations (19)

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

hypothyroidism

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)
Allele A
OR 0.10
p 8.0e-105
N 2,444,128
Large GWAS
multi-ancestry

basal cell carcinoma

Seviiri M et al. “A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.” Nature Communications 13(1):7650 (2022)
Allele A
OR —
p 3.0e-65
N 307,684
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 A
OR 0.11
p 1.0e-17
N 495,049
Major Consortium StudyLarge GWAS
multi-ancestry
Adolphe C et al. “Genetic and functional interaction network analysis reveals global enrichment of regulatory T cell genes influencing basal cell carcinoma susceptibility.” Genome Medicine 13(1):19 (2021)
Allele A
OR 0.12
p 3.0e-17
N 392,871
Large GWAS
European

squamous cell carcinoma

Seviiri M et al. “A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.” Nature Communications 13(1):7650 (2022)
Allele A
OR —
p 2.0e-33
N 294,294
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 A
OR 0.13
p 4.0e-20
N 438,891
Major Consortium StudyLarge GWAS
European

multiple sclerosis

“Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.” Science (new York, N.y.) 365(6460) (2019)
Allele A
OR 1.15
p 8.0e-29
N 41,505
Large GWAS
multi-ancestry
Shigesi N et al. “The phenotypic and genetic association between endometriosis and immunological diseases.” Human Reproduction (oxford, England) 40(6):1195-1209 (2025)
Allele A
OR 0.06
p 1.0e-11
N 62,543
Large GWAS
European
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 1.14
p 2.0e-15
N 38,589
Large GWAS
European

cutaneous melanoma

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 0.10
p 5.0e-27
N 434,871
Major Consortium StudyLarge GWAS
European

keratinocyte carcinoma

Liyanage UE et al. “Combined analysis of keratinocyte cancers identifies novel genome-wide loci.” Human Molecular Genetics 28(18):3148-3160 (2019)
Allele G
OR 1.11
p 1.0e-20
N 358,840
Large GWAS
European

Vitiligo

Jin Y et al. “Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.” Nature Genetics 48(11):1418-1424 (2016)
Allele A
OR 1.27
p 1.0e-14
N 40,258
Large GWAS
European

lymphocyte amount

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 3.0e-14
N 39,654
Large GWAS
European

type 1 diabetes mellitus

Onengut-Gumuscu S et al. “Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers.” Nature Genetics 47(4):381-6 (2015)
Allele A
OR 1.20
p 6.0e-14
N 21,526
Large GWAS
European
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Research that mentions this SNP (2)

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Identification of BACH2 as a susceptibility gene for Graves’ disease in the Chinese Han population based on a three-stage genome-wide association study
AssociationN=19,042Wei Liu et al.(2014)· Human Genetics

Three-stage genome-wide association study in 9,285 Chinese Han GD patients and 9,757 controls identifying BACH2 as a susceptibility gene for Graves' disease. rs2474619 in BACH2 intron 2 showed the strongest association with GD (OR=1.13, P=3.28×10⁻⁸). Fine mapping analysis also identified rs9344996 as an independent variant (OR=1.10, P=2.06×10⁻⁵), though rs2474619 remained the primary disease-associated signal.

Traits studied:Autoimmune thyroid diseaseCeliac diseaseCrohn's diseaseGraves' diseaseHashimoto's thyroiditisMultiple sclerosisType 1 diabetesVitiligo
PubMedDOIMetascience Observatory
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Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population
AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies
PubMedDOIMetascience Observatory

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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