rs117132860

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GWAS Catalog Trait Associations (10)

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

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 7.0e-71
N 307,684
Large GWAS
European
Choquet H et al. “Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma.” Communications Biology 7(1):33 (2024)
Allele A
OR 1.21
p 2.0e-14
N 802,297
Meta-analysisLarge 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 4.0e-56
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 0.29
p 7.0e-12
N 438,891
Major Consortium StudyLarge GWAS
European

cutaneous melanoma

Landi MT et al. “Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.” Nature Genetics 52(5):494-504 (2020)
Allele A
OR 1.41
p 4.0e-21
N 411,948
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 0.25
p 5.0e-19
N 434,871
Major Consortium StudyLarge GWAS
European

actinic keratosis

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 0.20
p 1.0e-20
N 412,119
Major Consortium StudyLarge GWAS
European

skin disease

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 0.16
p 2.0e-16
N 397,744
Major Consortium StudyLarge GWAS
European

melanoma

Ingold N et al. “Exploring the Germline Genetics of In Situ and Invasive Cutaneous Melanoma: A Genome-Wide Association Study Meta-Analysis.” Jama Dermatology 160(9):964-971 (2024)
Allele A
OR 0.29
p 5.0e-9
N 745,746
Meta-analysisLarge GWAS
European

cutaneous squamous cell carcinoma

Sarin KY et al. “Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma.” Nature Communications 11(1):820 (2020)
Allele A
OR 0.25
p 8.0e-9
N 699,198
Meta-analysisLarge GWAS
European
Chahal HS et al. “Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.” Nature Communications 7:12048 (2016)
Allele A
OR 1.48
p 4.0e-8
N 287,137
Large GWAS
European

skin neoplasm

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 0.21
p 1.0e-16
N 398,106
Major Consortium StudyLarge GWAS
European

skin cancer

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 0.21
p 3.0e-11
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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IRF4 rs12203592 functional variant and melanoma survival
Meta-analysisN=140,000Miriam Potrony et al.(2017)· International Journal of Cancer

Genome-wide association meta-analysis of cutaneous melanoma combining pathologically confirmed cases with 23andMe self-reported cases identified 54 genome-wide significant loci. The study confirmed 19 of 21 previously reported loci, revealed complex LD structure at the AHR/AGR3 region (rs117132860, p=3.8×10−21), and identified novel associations including those near MFSD12/FZR1. Key variants included rs12215602 (IRF4), rs16953002 and rs62034121 (FTO), and variants associated with pigmentation phenotypes (hair color, nevus count, sunburn susceptibility).

Traits studied:Childhood sunburnsCutaneous melanomaEase of tanningMelanoma histological subtypes (superficial spreading, nodular, lentigo maligna, acral)Melanoma susceptibilityNevus countPigmentation traits (hair color, skin color, eye color)Telomere length
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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