rs72678531

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GWAS Catalog Trait Associations (3)

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

primary biliary cirrhosis

Liu JZ et al. “Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.” Nature Genetics 44(10):1137-41 (2012)

Allele G

OR 1.61

p 2.0e-38

N 11,375

Large GWAS

European

Juran BD et al. “Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.” Human Molecular Genetics 21(23):5209-21 (2012)

Allele G

OR 1.68

p 3.0e-23

N 7,810

Large GWAS

European

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 C

OR 0.04

p 7.0e-14

N 2,444,128

Large GWAS

multi-ancestry

Hashimoto's thyroiditis

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 C

OR 0.09

p 2.0e-9

N 1,815,514

Large GWAS

multi-ancestry

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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