rs9469220

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.

complement C4 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele G
OR 0.28
p 3.0e-23
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

pemphigus

Zhang SY et al. “Subtype-specific inherited predisposition to pemphigus in the Chinese population.” The British Journal of Dermatology 180(4):828-835 (2019)
Allele G
OR 3.20
p 7.0e-22
N 851
Small GWAS
East Asian

pemphigus vulgaris

Zhang SY et al. “Subtype-specific inherited predisposition to pemphigus in the Chinese population.” The British Journal of Dermatology 180(4):828-835 (2019)
Allele G
OR 3.36
p 4.0e-19
N 756
Small GWAS
East Asian

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 5.0e-18
N 219,872
Major Consortium StudyLarge GWAS
European

squamous 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 0.10
p 3.0e-15
N 620,264
Major Consortium StudyLarge GWAS
multi-ancestry

testosterone measurement

Pagadala MS et al. “Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.” Nature Communications 16(1):4104 (2025)
Allele G
OR 0.03
p 5.0e-10
N 137,984
Major Consortium StudyLarge GWAS
multi-ancestry

BMI-adjusted waist-hip ratio

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 9.0e-16
N 219,872
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (1)

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Functional relevance for multiple sclerosis-associated genetic variants
FunctionalXiang Lin et al.(2015)· Immunogenetics

Functional analysis of 284 MS-associated genetic variants using integrative approaches including GRAIL analysis, eQTL analysis, and differential gene expression. Identified 45 SNPs acting as cis-regulators on 19 MS-associated genes, with 6 key SNPs (rs3095329, rs9469220, rs2647046, rs11154801, rs1062158, rs7194) showing strong functional evidence via transcription factor binding sites or microRNA targets and differential expression in immune cells.

Traits studied:Multiple sclerosis
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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