rs9271597

This is a upstream gene variant variant.

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GWAS Catalog Trait Associations (2)

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

Vitiligo

Jin Y et al. “Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.” Nature Genetics 48(11):1418-1424 (2016)

Allele A

OR 1.77

p 3.0e-89

N 40,258

Large GWAS

European

Jin Y et al. “Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression.” Nature Communications 10(1):391 (2019)

Allele A

OR 1.63

p 4.0e-34

N 20,623

Large GWAS

European

factor VIII measurement

Sabater-Lleal M et al. “Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.” Circulation 139(5):620-635 (2019)

Allele A

OR 0.02

p 1.0e-8

N 32,610

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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