rs2030519

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GWAS Catalog Trait Associations (4)

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

celiac disease

Trynka G et al. “Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.” Nature Genetics 43(12):1193-201 (2011)

Allele A

OR 1.32

p 3.0e-49

N 24,269

Large GWAS

multi-ancestry

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 0.07

p 6.0e-17

N 615,770

Major Consortium StudyLarge GWAS

multi-ancestry

allergic rhinitis

Waage J et al. “Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.” Nature Genetics 50(8):1072-1080 (2018)

Allele G

OR 1.06

p 2.0e-13

N 212,120

Large GWAS

multi-ancestry

blood immunoglobulin amount

Wei Y et al. “Genome-wide association studies of thyroid-related hormones, dysfunction, and autoimmunity among 85,421 Chinese pregnancies.” Nature Communications 15(1):8004 (2024)

Allele G

OR 0.11

p 8.0e-10

N 60,225

Large GWAS

East Asian

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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