rs2307111
This is a variant in the POC5 gene that changes a histidine to an arginine.
▶GWAS Catalog Trait Associations (62)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (62)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body mass index
Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele T
OR 0.03
p 8.0e-60
N 694,649
Large GWAS
European
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 T
OR 0.03
p 7.0e-18
N 607,391
Major Consortium StudyLarge GWAS
multi-ancestry
Turcot V et al. “Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.” Nature Genetics 50(1):26-41 (2018)
Allele T
OR 0.02
p 9.0e-32
N 526,508
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.03
p 1.0e-44
N 523,818
Large GWAS
multi-ancestry
Hawkes G et al. “Genetic evidence that high BMI in childhood has a protective effect on intermediate diabetes traits, including measures of insulin sensitivity and secretion, after accounting for BMI in adulthood.” Diabetologia 66(8):1472-1480 (2023)
Allele T
OR 0.03
p 2.0e-46
N 441,761
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 T
OR 0.03
p 2.0e-41
N 394,642
Large GWAS
European
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.03
p 2.0e-30
N 342,566
Large GWAS
European
Zhang X et al. “Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele.” Nature Communications 16(1):3470 (2025)
Allele T
OR 0.03
p 7.0e-10
N 88,873
Large GWAS
multi-ancestry
body weight
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 0.02
p 2.0e-48
N 394,642
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.02
p 1.0e-47
N 525,535
Large GWAS
multi-ancestry
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 C
OR 0.03
p 7.0e-28
N 425,537
Major Consortium StudyLarge GWAS
European
cholesterol to total lipids in large HDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.03
p 1.0e-44
N 450,015
Large GWAS
multi-ancestry
hip circumference
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 0.03
p 4.0e-39
N 394,642
Large GWAS
European
cholesteryl esters to total lipids in large HDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 4.0e-38
N 450,015
Large GWAS
multi-ancestry
whole body water mass
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 1.0e-37
N 394,642
Large GWAS
European
waist circumference
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 0.02
p 8.0e-37
N 394,642
Large GWAS
European
fat pad mass
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 0.02
p 4.0e-34
N 394,642
Large GWAS
European
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele C
OR 0.03
p 2.0e-28
N 337,196
Large GWAS
European
free cholesterol to total lipids in medium HDL percentage
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele C
OR 0.02
p 9.0e-34
N 450,015
Large GWAS
multi-ancestry
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 0.02
p 7.0e-33
N 453,169
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
3 submitters2 publicationsAbout POC5
Involved in centriole elongation and negative regulation of centriole elongation. Located in centriole and centrosome. [provided by Alliance of Genome Resources, Jul 2025]
View all POC5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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