rs56175344

This is a regulatory region variant variant in the PANX1 gene.

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GWAS Catalog Trait Associations (3)

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 G

OR 0.01

p 2.0e-94

N 1,010,710

Large GWAS

European

Vujkovic M et al. “A multiancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.” Nature Genetics 54(6):761-771 (2022)

Allele G

OR 0.13

p 5.0e-40

N 218,595

Large GWAS

multi-ancestry

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 0.04

p 1.0e-52

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 G

OR 0.05

p 6.0e-44

N 493,058

Large GWAS

multi-ancestry

Chen VL et al. “Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.” Nature Communications 12(1):816 (2021)

Allele G

OR 12.80

p 9.0e-38

N 389,565

Large GWAS

multi-ancestry

aspartate aminotransferase to alanine aminotransferase ratio

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 0.04

p 4.0e-32

N 562,117

Major Consortium StudyLarge GWAS

multi-ancestry

About PANX1

The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]

rs56175344

GWAS Catalog Trait Associations (3)

serum alanine aminotransferase amount

aspartate aminotransferase measurement

aspartate aminotransferase to alanine aminotransferase ratio

About PANX1

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