Annotation Detail
Information
- Associated Genes
- CACNA1C
- Associated Variants
-
rs10994359
(
ENST00000373827.6,
ENST00000503366.6 )
CACNA1C c.477+119988G>C ( ENST00000399637.5, ENST00000682336.1, ENST00000399617.6, ENST00000399603.6, ENST00000682462.1, ENST00000399641.6, ENST00000399606.5, ENST00000335762.10, ENST00000399634.6, ENST00000683824.1, ENST00000327702.12, ENST00000399629.5, ENST00000399595.5, ENST00000683781.1, ENST00000399591.5, ENST00000399644.5, ENST00000682544.1, ENST00000682835.1, ENST00000399655.6, ENST00000347598.9, ENST00000399649.5, ENST00000683482.1, ENST00000399597.5, ENST00000683840.1, ENST00000682686.1, ENST00000399621.5, ENST00000399638.5, ENST00000399601.5, ENST00000406454.8, ENST00000402845.7, ENST00000683956.1, ENST00000344100.7 )
ITIH4 c.1540-83A>G, ENSG00000243696 c.*1672-83A>G ( ENST00000266041.9, ENST00000406595.5, ENST00000485816.5 )
rs10994359 ( ENST00000373827.6, ENST00000503366.6 )
CACNA1C c.477+119988G>C ( ENST00000327702.12, ENST00000335762.10, ENST00000344100.7, ENST00000347598.9, ENST00000399591.5, ENST00000399595.5, ENST00000399597.5, ENST00000399601.5, ENST00000399603.6, ENST00000399606.5, ENST00000399617.6, ENST00000399621.5, ENST00000399629.5, ENST00000399634.6, ENST00000399637.5, ENST00000399638.5, ENST00000399641.6, ENST00000399644.5, ENST00000399649.5, ENST00000399655.6, ENST00000402845.7, ENST00000406454.8, ENST00000682336.1, ENST00000682462.1, ENST00000682544.1, ENST00000682686.1, ENST00000682835.1, ENST00000683482.1, ENST00000683781.1, ENST00000683824.1, ENST00000683840.1, ENST00000683956.1 )
ITIH4 c.1540-83A>G, ENSG00000243696 c.*1672-83A>G ( ENST00000266041.9, ENST00000406595.5, ENST00000485816.5 ) - Associated Disease
- bipolar disorder
- Source Database
- DisGeNET
- Description
- In a joint analysis with a bipolar disorder sample (16,374 affected individuals and 14,044 controls), three loci reached genome-wide significance: CACNA1C (rs4765905, P = 7.0 × 10(-9)), ANK3 (rs10994359, P = 2.5 × 10(-8)) and the ITIH3-ITIH4 region (rs2239547, P = 7.8 × 10(-9)).
- Pubmed
- 21926974
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.269598433710069
- Year of publication
- 2011
Drugs