rs17277986
This is a intron variant variant in the SORCS1 gene.
▶Research that mentions this SNP (1)
▶Genomic convergence to identify candidate genes for Alzheimer Disease on chromosome 10AssociationN=1,577Xueying Liang et al.(2009)· Human Mutation
A genomic convergence study of 506 Alzheimer disease cases and 558 controls identified genetic associations in chromosome 10 genes PTPLA, SORCS1, and CACNB2 with late-onset Alzheimer disease (LOAD). The most significant finding was rs17277986 in SORCS1, which showed allelic association p=0.00002 in females (3-locus haplotype p=0.0005). PTPLA showed allelic association p=0.0022 (rs10508533) and CACNB2 showed significant gene-gene interactions, with suggestive evidence that genetic variations in these genes may alter AD risk through multiple pathways including amyloid-β generation, calcium signaling, and tau phosphorylation.
About SORCS1
This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
View all SORCS1 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…