rs6908626

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GWAS Catalog Trait Associations (7)

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

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 0.11

p 1.0e-29

N 608,997

Major Consortium StudyLarge GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.08

p 3.0e-11

N 670,929

Large GWAS

multi-ancestry

basal cell carcinoma

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 0.12

p 1.0e-24

N 435,548

Major Consortium StudyLarge 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 G

OR 0.91

p 2.0e-24

N 802,297

Meta-analysisLarge GWAS

European

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 7.0e-20

N 651,138

Large GWAS

European

hypothyroidism

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.14

p 2.0e-24

N 583,911

Large GWAS

multi-ancestry

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 T

OR 0.06

p 6.0e-12

N 39,646

Large GWAS

European

lymphocyte percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele T

OR 0.02

p 2.0e-10

N 408,112

Large 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 G

OR 1.09

p 4.0e-9

N 411,948

Large GWAS

European

hyperthyroidism

Figuerêdo J et al. “Uncovering the shared genetic components of thyroid disorders and reproductive health.” European Journal of Endocrinology 191(2):211-222 (2024)

Allele T

OR 1.17

p 2.0e-8

N 743,008

Large GWAS

European

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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

PubMed DOI Metascience Observatory

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

rs6908626

GWAS Catalog Trait Associations (7)

skin neoplasm

basal cell carcinoma

hypothyroidism

lymphocyte amount

lymphocyte percentage of leukocytes

cutaneous melanoma

hyperthyroidism

Research that mentions this SNP (1)

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