rs28384811
This variant is located in the SKI gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
serum gamma-glutamyl transferase measurement
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 C
OR 0.04
p 4.0e-20
N 928,679
Large GWAS
multi-ancestry
serum alanine aminotransferase 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 C
OR 0.04
p 3.0e-18
N 928,679
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 C
OR 0.03
p 2.0e-14
N 494,681
Large GWAS
multi-ancestry
forced expiratory volume
Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)
Allele C
OR 7.41
p 1.0e-13
N 588,452
Large GWAS
multi-ancestry
▶ClinVar annotation
Likely Benign★★★☆
13 submitters3 publicationsnot specified; Shprintzen-Goldberg syndrome; not provided; Familial thoracic aortic aneurysm and aortic dissection
View on ClinVar →About SKI
This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]
View all SKI variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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