rs188050966

This is a intron variant variant in the LINC01478 gene.

GWAS Catalog Trait Associations (2)

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

platelet count

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 0.05
p 4.0e-24
N 583,459
Major Consortium StudyLarge GWAS
multi-ancestry

Erdheim-Chester disease

Martínez-López J et al. Genome-Wide Association Study Identifies the First Germline Genetic Variant Associated With Erdheim-Chester Disease. Arthritis & Rheumatology (hoboken, N.j.) 76(1):141-145 (2024)
Allele A
OR 2.09
p 3.0e-11
N 7,726
Large GWAS
European

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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