rs146886108

This variant is located in the ANKH gene.

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GWAS Catalog Trait Associations (10)

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

type 2 diabetes mellitus

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 0.34
p 1.0e-38
N 432,648
Major Consortium StudyLarge GWAS
European
Vujkovic M et al. “Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.” Nature Genetics 52(7):680-691 (2020)
Allele C
OR 0.39
p 2.0e-31
N 1,114,458
Meta-analysisLarge GWAS
European
Mahajan A et al. “Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps.” Nature Genetics 50(11):1505-1513 (2018)
Allele C
OR 1.41
p 8.0e-13
N 898,130
Large GWAS
European
Xue A et al. “Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.” Nature Communications 9(1):2941 (2018)
Allele C
OR 1.41
p 4.0e-9
N 455,607
Large GWAS
European

hemoglobin A1 measurement

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 0.16
p 2.0e-31
N 415,403
Large GWAS
multi-ancestry

blood phosphate measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.13
p 3.0e-18
N 325,141
Major Consortium StudyLarge GWAS
multi-ancestry

blood glucose amount

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele T
OR 0.12
p 1.0e-17
N 928,679
Large GWAS
multi-ancestry
Willems SM et al. “Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.” Wellcome Open Research 8:483 (2023)
Allele T
OR 0.09
p 6.0e-10
N 129,665
Large GWAS
multi-ancestry

phosphate measurement

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 0.10
p 2.0e-17
N 394,642
Large GWAS
European

diabetes mellitus, Drugs used in diabetes use 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 C
OR 0.33
p 9.0e-17
N 315,668
Major Consortium StudyLarge GWAS
European

diabetic neuropathy

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 0.25
p 4.0e-11
N 434,644
Major Consortium StudyLarge GWAS
European

diabetes mellitus

Jiang L et al. “A generalized linear mixed model association tool for biobank-scale data.” Nature Genetics 53(11):1616-1621 (2021)
Allele C
OR 0.39
p 1.0e-10
N 455,017
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 C
OR 0.33
p 3.0e-11
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

glucose 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 C
OR 0.21
p 1.0e-23
N 601,111
Major Consortium StudyLarge 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 C
OR 0.10
p 2.0e-12
N 448,252
Large GWAS
multi-ancestry
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 0.09
p 3.0e-13
N 394,642
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.11
p 9.0e-13
N 325,386
Major Consortium StudyLarge GWAS
multi-ancestry

HbA1c measurement

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 0.14
p 4.0e-40
N 394,642
Large GWAS
European
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele C
OR 0.17
p 1.0e-30
N 338,919
Major Consortium StudyLarge 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 0.27
p 1.0e-47
N 338,640
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Likely Benign★★★☆
8 submitters2 publications

Chondrocalcinosis 2; Craniometaphyseal dysplasia, autosomal dominant; not specified; not provided; ANKH-related disorder

View on ClinVar →

About ANKH

This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]

View all ANKH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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