rs12699477
This is a intron variant variant in the MAD1L1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Testicular Germ Cell Tumor
Litchfield K et al. “Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.” Nature Genetics 49(7):1133-1140 (2017)
Allele C
OR 1.20
p 6.0e-13
N 24,573
Large GWAS
European
Wang Z et al. “Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.” Nature Genetics 49(7):1141-1147 (2017)
Allele C
OR 1.21
p 2.0e-10
N 17,528
Meta-analysisLarge GWAS
European
testicular carcinoma
Chung CC et al. “Meta-analysis identifies four new loci associated with testicular germ cell tumor.” Nature Genetics 45(6):680-5 (2013)
Allele C
OR 1.21
p 6.0e-9
N 1,638
Meta-analysis
European
About MAD1L1
MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
View all MAD1L1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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