rs11580946
This is a protein-altering variant in the MCL1 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
protein measurement
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele A
OR 1.41
p 2.0e-42
N 3,506
Large GWAS
European
serum gamma-glutamyl transferase measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.09
p 1.0e-19
N 355,690
Major Consortium StudyLarge GWAS
multi-ancestry
serum alanine aminotransferase amount
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.07
p 1.0e-14
N 355,729
Major Consortium StudyLarge GWAS
multi-ancestry
aspartate aminotransferase to alanine aminotransferase ratio
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.06
p 2.0e-9
N 354,455
Major Consortium StudyLarge GWAS
multi-ancestry
pulse pressure measurement
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.39
p 3.0e-9
N 1,164,961
Meta-analysisLarge GWAS
European
systolic blood pressure
Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele A
OR 0.52
p 2.0e-8
N 1,317,884
Meta-analysisLarge GWAS
multi-ancestry
About MCL1
This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell survival by inhibiting apoptosis while the alternatively spliced shorter gene products (isoform 2 and isoform 3) promote apoptosis and are death-inducing. [provided by RefSeq, Oct 2010]
View all MCL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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