rs11966463
This is a regulatory region variant variant in the CASC15 gene.
▶Research that mentions this SNP (1)
▶Replication of genetic loci for sarcoidosis in US black women: data from the Black Women’s Health StudyAssociationN=1,429Yvette Cozier et al.(2013)· Human Genetics
Nested case-control study (486 cases, 943 controls) of African-American women from the Black Women's Health Study examining SNPs in the BTNL2 gene and ancestry informative markers for sarcoidosis susceptibility. The rs3817963 A-allele was associated with 40% increased sarcoidosis risk (p=0.02, OR=1.40), and rs30533 African ancestry was associated with 39-43% decreased risk (p=0.01). Higher global African ancestry was associated with 54% increased sarcoidosis risk in the highest quintile (p=0.03).
About CASC15
This gene produces a long non-coding RNA that may regulate cell proliferation. This RNA is upregulated in hepatocellular carcinoma, where it is thought to function as an oncogene. However, some splice variants of this gene may function as a tumor suppressor in neuroblastoma and other tumor types. Circular RNA variants were observed at this gene. [provided by RefSeq, Dec 2017]
View all CASC15 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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