rs2294081
This variant is located in the SCGB1C1 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.
platelet volume
Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele C
OR 0.08
p 9.0e-106
N 164,454
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.05
p 2.0e-35
N 408,112
Large GWAS
European
platelet count
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele C
OR 0.02
p 1.0e-10
N 408,112
Large GWAS
European
chromosome, telomeric region length
Burren OS et al. “Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.” Nature Genetics 56(9):1832-1840 (2024)
Allele T
OR 0.01
p 3.0e-9
N 438,351
Major Consortium StudyLarge GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
2 submitters2 publicationsAbout SCGB1C1
Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]
View all SCGB1C1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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