rs3851294
This variant is located in the DSTYK gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cutaneous melanoma, hair color
Landi MT et al. “Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.” Nature Genetics 52(5):494-504 (2020)
Allele A
OR —
p 2.0e-82
N 764,610
Large GWAS
European
high density lipoprotein cholesterol measurement
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 A
OR 0.05
p 8.0e-24
N 404,121
Major Consortium StudyLarge GWAS
European
triglyceride measurement
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 A
OR 0.05
p 5.0e-22
N 391,626
Major Consortium StudyLarge GWAS
European
Klarin D et al. “Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.” Nature Genetics 50(11):1514-1523 (2018)
Allele A
OR 0.02
p 4.0e-9
N 297,626
Major Consortium StudyLarge GWAS
multi-ancestry
BMI-adjusted waist-hip ratio
Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)
Allele G
OR 0.03
p 2.0e-15
N 660,648
Large GWAS
European
Justice AE et al. “Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.” Nature Genetics 51(3):452-469 (2019)
Allele G
OR 0.03
p 4.0e-11
N 337,647
Large GWAS
multi-ancestry
Dupuytren Contracture
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 A
OR 0.19
p 2.0e-13
N 447,363
Major Consortium StudyLarge GWAS
European
amount of iron in brain
Casanova F et al. “MRI-derived brain iron, grey matter volume, and risk of dementia and Parkinson's disease: Observational and genetic analysis in the UK Biobank cohort.” Neurobiology of Disease 197:106539 (2024)
Allele A
OR 0.08
p 5.0e-13
N 39,533
Major Consortium StudyLarge GWAS
European
waist-hip ratio
Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)
Allele A
OR 0.02
p 1.0e-11
N 381,152
Meta-analysisLarge GWAS
European
Lotta LA et al. “Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.” Jama 320(24):2553-2563 (2018)
Allele A
OR —
p 5.0e-8
N 663,598
Large GWAS
European
cardiovascular measurement
Kany S et al. “Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.” Nature Genetics 58(1):47-56 (2026)
Allele A
OR 0.05
p 3.0e-8
N 77,183
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
5 submitters2 publicationsnot specified; Hereditary spastic paraplegia 23; not provided; Congenital anomalies of kidney and urinary tract 1
View on ClinVar →About DSTYK
This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. It is thought to function as a regulator of cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
View all DSTYK variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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