Annotation Detail
Information
- Associated Genes
- LINC01193
- Associated Variants
-
CTLA4 c.*1148+236G>A
CBLB p.Ala621= (p.A621=) ( ENST00000394030.8, ENST00000403724.5, ENST00000405772.5 )
CTLA4 c.*1148+236G>A
CBLB p.Ala621= (p.A621=) ( ENST00000394030.8, ENST00000403724.5, ENST00000405772.5 ) - Associated Disease
- Diabetes Mellitus, Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Furthermore, evidence of a statistical interaction with the known T1D susceptibility-associated CTLA4 polymorphism rs3087243 (laboratory name CT60, G>A) was reported (P<0.0001), such that the CBLB SNP rs3772534 G allele was overtransmitted to offspring with the CTLA4 rs3087243 G/G genotype.
- Pubmed
- 17209142
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2007
Drugs