rs1050700
This variant is located in the TSC1 gene.
▶ClinVar annotation
Tuberous sclerosis 1; Isolated focal cortical dysplasia type II; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean populationAssociationN=1,940Byung Lae Park et al.(2013)· Human Genetics
Genome-wide association study identifying HLA-DPB1 rs1042151 (Met105Val) as the most significant genetic variant associated with aspirin-exacerbated respiratory disease (AERD) in Korean asthmatics (p = 5.11 × 10−7; OR = 2.40). The variant also showed significant gene-dose effects on FEV1 decline following aspirin challenge (p = 2.82 × 10−7), confirming HLA-DPB1 as a key susceptibility locus for AERD.
About TSC1
This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signaling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including TSC2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]
View all TSC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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