rs76038336

This is a regulatory region variant variant in the AXIN1 gene.

▶

GWAS Catalog Trait Associations (4)

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

aging

Lin WY et al. “Lifestyle Factors and Genetic Variants on 2 Biological Age Measures: Evidence From 94 443 Taiwan Biobank Participants.” The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences 77(6):1189-1198 (2022)
Allele C
OR 1.85
p 1.0e-300
N 25,460
Large GWAS
East Asian

HbA1c measurement

Gu Y et al. “Genetic architecture and risk prediction of gestational diabetes mellitus in Chinese pregnancies.” Nature Communications 16(1):4178 (2025)
Allele C
OR 0.24
p 5.0e-26
N 69,269
Large GWAS
East Asian

platelet volume

Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)
Allele C
OR 0.25
p 2.0e-23
N 71,605
Large GWAS
East Asian

platelet count

Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)
Allele C
OR 0.19
p 4.0e-16
N 72,816
Large GWAS
East Asian

About AXIN1

This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

View all AXIN1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…