rs1462906
This is a intron variant variant in the NRG1 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 NRG1
The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene through alternative promoter usage and splicing. These isoforms are expressed in a tissue-specific manner and differ significantly in their structure, and are classified as types I, II, III, IV, V and VI. Dysregulation of this gene has been linked to diseases such as cancer, schizophrenia, and bipolar disorder (BPD). [provided by RefSeq, Apr 2016]
View all NRG1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…