rs75495843

This variant is located in the PLCD1 gene.

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GWAS Catalog Trait Associations (7)

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

Epidermal Inclusion Cyst

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 0.43
p 2.0e-102
N 420,570
Major Consortium StudyLarge GWAS
European

sebaceous gland disease

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 0.27
p 1.0e-59
N 398,370
Major Consortium StudyLarge GWAS
European

hair anomaly

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 0.29
p 9.0e-19
N 428,793
Major Consortium StudyLarge GWAS
European

osteoarthritis, hip, total hip arthroplasty

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele A
OR 0.87
p 1.0e-10
N 1,031,046
Large GWAS
multi-ancestry

neck of femur size

Tobias JH et al. “Femoral neck width genetic risk score is a novel independent risk factor for hip fractures.” Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research 39(3):241-251 (2024)
Allele A
OR 0.12
p 5.0e-10
N 38,150
Large GWAS
European

osteoarthritis

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele A
OR 0.95
p 2.0e-9
N 1,962,069
Large GWAS
multi-ancestry

osteoarthritis, hip

Hatzikotoulas K et al. “Translational genomics of osteoarthritis in 1,962,069 individuals.” Nature 641(8065):1217-1224 (2025)
Allele A
OR 0.91
p 2.0e-9
N 1,152,707
Large GWAS
multi-ancestry
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ClinVar annotation

Benign
1 submitter

PLCD1-related disorder

View on ClinVar →

About PLCD1

This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

View all PLCD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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