rs10248619
This is a intron variant variant in the GRB10 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
blood glucose amount
▶Research that mentions this SNP (1)
▶A genome‐wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22AssociationN=53,938Hanneke J. M. Kerkhof et al.(2010)· Arthritis & Rheumatism
Genome-wide association study identifying 14,938 osteoarthritis cases and approximately 39,000 controls found that the C-allele of rs3815148 on chromosome 7q22 (near GPR22 gene) is associated with 1.14-fold increased risk of knee/hand OA (p=8×10⁻⁸) and 30% increased risk for knee OA progression. The same study identified rs10248619 and rs6088813 with secondary associations to OA.
About GRB10
The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
View all GRB10 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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