rs10781499

This is a synonymous variant in the CARD9 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

inflammatory bowel disease

Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele A
OR 1.19
p 4.0e-56
N 34,366
Large GWAS
European

Crohn's disease

Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele A
OR 1.18
p 8.0e-43
N 20,883
Large GWAS
multi-ancestry

ulcerative colitis

Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele A
OR 1.14
p 4.0e-26
N 27,432
Large GWAS
multi-ancestry
Anderson CA et al. “Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.” Nature Genetics 43(3):246-52 (2011)
Allele A
OR 1.12
p 3.0e-19
N 26,405
Meta-analysisLarge GWAS
European
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ClinVar annotation

Benign★★★☆
7 submitters3 publications

Predisposition to invasive fungal disease due to CARD9 deficiency (IMD103); not specified

View on ClinVar →

About CARD9

The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]

View all CARD9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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