Annotation Detail
Information
- Associated Genes
- CDKAL1
- Associated Variants
-
GRK5 c.262-6804C>T
(
ENST00000392870.3 )
RASGRP1 c.221-4300A>G ( ENST00000559830.5, ENST00000561180.5, ENST00000697780.1, ENST00000697784.1, ENST00000561117.6, ENST00000697785.1, ENST00000450598.6, ENST00000558432.5, ENST00000558418.6, ENST00000558164.5, ENST00000697783.1, ENST00000310803.10, ENST00000697782.1 )
RASGRP1 c.221-4300A>C ( ENST00000559830.5, ENST00000561180.5, ENST00000697784.1, ENST00000697780.1, ENST00000697785.1, ENST00000450598.6, ENST00000561117.6, ENST00000558418.6, ENST00000558432.5, ENST00000558164.5, ENST00000697782.1, ENST00000310803.10, ENST00000697783.1 )
CDKAL1 c.371+11642G>C ( ENST00000274695.8, ENST00000378610.1 )
CDKAL1 c.371+11642G>T ( ENST00000274695.8, ENST00000378610.1 )
GRK5 c.262-6804C>T ( ENST00000392870.3 )
RASGRP1 c.221-4300A>G ( ENST00000310803.10, ENST00000450598.6, ENST00000558164.5, ENST00000558418.6, ENST00000558432.5, ENST00000559830.5, ENST00000561117.6, ENST00000561180.5, ENST00000697780.1, ENST00000697782.1, ENST00000697783.1, ENST00000697784.1, ENST00000697785.1 )
RASGRP1 c.221-4300A>C ( ENST00000310803.10, ENST00000450598.6, ENST00000558164.5, ENST00000558418.6, ENST00000558432.5, ENST00000559830.5, ENST00000561117.6, ENST00000561180.5, ENST00000697780.1, ENST00000697782.1, ENST00000697783.1, ENST00000697784.1, ENST00000697785.1 )
CDKAL1 c.371+11642G>C ( ENST00000274695.8, ENST00000378610.1 )
CDKAL1 c.371+11642G>T ( ENST00000274695.8, ENST00000378610.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Besides confirming seven established T2D loci (CDKAL1, CDKN2A/B, KCNQ1, CDC123, GLIS3, HNF1B, and DUSP9) at genome-wide significance, we identified two novel T2D loci, including G-protein-coupled receptor kinase 5 (GRK5) (rs10886471: P = 7.1 × 10(-9)) and RASGRP1 (rs7403531: P = 3.9 × 10(-9)), of which the association signal at GRK5 seems to be specific to East Asians.
- Pubmed
- 22961080
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.420629582278103
- Year of publication
- 2013
Drugs