rs540546007

This variant is located in the XKR4 gene.

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GWAS Catalog Trait Associations (2)

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

familial hemolytic anemia

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 3.31

p 2.0e-11

N 629,822

Major Consortium StudyLarge GWAS

multi-ancestry

inherited hemoglobinopathy

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 3.77

p 2.0e-11

N 571,671

Major Consortium StudyLarge GWAS

multi-ancestry

About XKR4

Enables phospholipid scramblase activity. Involved in phosphatidylserine exposure on apoptotic cell surface. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all XKR4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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