rs501942
This variant is located in the SLC44A4 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.
upper aerodigestive tract neoplasm
Lesseur C et al. “Genome-wide association meta-analysis identifies pleiotropic risk loci for aerodigestive squamous cell cancers.” Plos Genetics 17(3):e1009254 (2021)
Allele T
OR 1.26
p 3.0e-19
N 75,848
Meta-analysisLarge GWAS
European
lung carcinoma
McKay JD et al. “Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.” Nature Genetics 49(7):1126-1132 (2017)
Allele T
OR 1.19
p 8.0e-19
N 85,716
Large GWAS
European
Inguinal hernia
Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)
Allele C
OR 1.11
p 3.0e-9
N 275,546
Major Consortium StudyLarge GWAS
European
About SLC44A4
The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]
View all SLC44A4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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