rs9663238
This is a intron variant variant in the HKDC1 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
serum alanine aminotransferase amount
Ghouse J et al. “Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.” Nature Genetics 56(5):827-837 (2024)
Allele A
OR 0.01
p 2.0e-55
N 1,010,710
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 A
OR 0.02
p 3.0e-13
N 584,062
Major Consortium StudyLarge GWAS
multi-ancestry
glucose tolerance test
Gu Y et al. “Genetic architecture and risk prediction of gestational diabetes mellitus in Chinese pregnancies.” Nature Communications 16(1):4178 (2025)
Allele A
OR 0.10
p 1.0e-31
N 85,086
Large GWAS
East Asian
aspartate aminotransferase measurement
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.02
p 2.0e-28
N 394,642
Large GWAS
European
total lipids in small HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 2.0e-13
N 241,027
Large GWAS
European
phospholipids in small HDL measurement
Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele G
OR 0.02
p 7.0e-13
N 241,027
Large GWAS
European
gestational diabetes
Pervjakova N et al. “Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes.” Human Molecular Genetics 31(19):3377-3391 (2022)
Allele G
OR 1.14
p 3.0e-8
N 358,736
Large GWAS
multi-ancestry
About HKDC1
This gene encodes a member of the hexokinase protein family. The encoded protein is involved in glucose metabolism, and reduced expression may be associated with gestational diabetes mellitus. High expression of this gene may also be associated with poor prognosis in hepatocarcinoma. [provided by RefSeq, Sep 2016]
View all HKDC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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