rs6498169 has been reported in a large study to be associated with multiple sclerosis.
The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with this allele is 1.14 (CI 1.08-1.21). [PMID 17660530]
[PMID 19317741] Autoimmune disease association signals in CIITA and KIAA0350 are not involved in celiac disease susceptibility
[PMID 19734133] A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-CCP negative rheumatoid arthritis
[PMID 18650830] Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
[PMID 18987646] The expanding genetic overlap between multiple sclerosis and type I diabetes.
[PMID 19221398] Chromosomal region 16p13: further evidence of increased predisposition to immune diseases.
[PMID 19337309] Specific association of a CLEC16A/KIAA0350 polymorphism with NOD2/CARD15(-) Crohn's disease patients.
[PMID 20007504] Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.
[PMID 20211854] CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis.
[PMID 20220768] A candidate gene study of CLEC16A does not provide evidence of association with risk for anti-CCP-positive rheumatoid arthritis.
[PMID 20368992] Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
[PMID 21179112] Exploring the CLEC16A gene reveals a MS-associated variant with correlation to the relative expression of CLEC16A isoforms in thymus.
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 23151489] Multiple sclerosis-associated single-nucleotide polymorphisms in CLEC16A correlate with reduced SOCS1 and DEXI expression in the thymus