rs719802
This variant is located in the TTC12 gene.
▶GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (7)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
visceral adipose tissue quantity
Karlsson T et al. “Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease.” Nature Medicine 25(9):1390-1395 (2019)
Allele T
OR 0.02
p 8.0e-12
N 325,153
Large GWAS
European
body mass index
Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.01
p 2.0e-10
N 1,122,049
Large GWAS
European
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 C
OR 0.01
p 1.0e-9
N 806,834
Meta-analysisLarge GWAS
European
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele C
OR 0.01
p 1.0e-9
N 694,649
Large GWAS
European
Sidorenko J et al. “Genetic architecture reconciles linkage and association studies of complex traits.” Nature Genetics 56(11):2352-2360 (2024)
Allele C
OR 0.01
p 1.0e-8
N 650,000
Large GWAS
European
substance-related disorder
Lai D et al. “Genome-wide meta-analyses of cross substance use disorders in diverse populations.” Molecular Psychiatry 31(3):1619-1633 (2026)
Allele T
OR 6.25
p 4.0e-10
N 1,517,369
Large GWAS
multi-ancestry
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 T
OR 0.01
p 4.0e-10
N 697,734
Meta-analysisLarge GWAS
European
aspartate aminotransferase measurement, low density lipoprotein triglyceride measurement, serum alanine aminotransferase amount, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement
Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele T
OR —
p 3.0e-9
N 389,354
Large GWAS
European
body height
Richardson TG et al. “Use of genetic variation to separate the effects of early and later life adiposity on disease risk: mendelian randomisation study.” Bmj (clinical Research Ed.) 369:m1203 (2020)
Allele T
OR 0.01
p 6.0e-9
N 453,169
Large GWAS
European
body fat percentage
Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele C
OR —
β 0.011
p 6.0e-12
N 442,278
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.01
p 3.0e-12
N 394,642
Large GWAS
European
▶ClinVar annotation
About TTC12
Involved in axonemal dynein complex assembly and sperm axoneme assembly. Located in several cellular components, including centrosome; cytosol; and nuclear membrane. Implicated in acute lymphoblastic leukemia; alcohol dependence; drug dependence (multiple); nicotine dependence; and primary ciliary dyskinesia 45. [provided by Alliance of Genome Resources, Jul 2025]
View all TTC12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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