Annotation Detail
Information
- Associated Genes
- IGF2R
- Associated Variants
-
IGF2R MUTATION
IGF2R MUTATION
ABCC8 c.2289-1964T>C ( ENST00000647015.1, ENST00000683136.1, ENST00000642271.1, ENST00000644772.1, ENST00000646902.1, ENST00000302539.9, ENST00000684571.1, ENST00000389817.8, ENST00000643260.1 )
rs362551
IGF2R p.Ser350= (p.S350=) ( ENST00000356956.6 )
IGF2R c.*4510T>C ( ENST00000356956.6, ENST00000678224.1 )
ABCC8 c.2289-1964T>C ( ENST00000302539.9, ENST00000389817.8, ENST00000642271.1, ENST00000643260.1, ENST00000644772.1, ENST00000646902.1, ENST00000647015.1, ENST00000683136.1, ENST00000684571.1 )
rs362551
IGF2R p.Ser350= (p.S350=) ( ENST00000356956.6 )
IGF2R c.*4510T>C ( ENST00000356956.6, ENST00000678224.1 ) - Associated Disease
- Metabolic syndrome X
- Source Database
- DisGeNET
- Description
- For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs1570070 (IGF2R), and rs916829 (ABCC8), heterozygotes showed a lower risk of MetS compared with the reference group.
- Pubmed
- 25867398
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2016
Drugs