Annotation Detail
Information
- Associated Genes
- CABCOCO1
- Associated Variants
-
CYP17A1 c.666+35T>C
(
ENST00000638272.1,
ENST00000369887.4,
ENST00000638971.1,
ENST00000638190.1,
ENST00000639393.1 )
CNNM2 c.*9241T>C ( ENST00000369878.9 )
CABCOCO1 c.817-1106C>T ( ENST00000648843.3, ENST00000330194.2 )
GRK4 p.Arg65His (p.R65H) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Arg65Leu (p.R65L) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
DRD1 c.-94G>A ( ENST00000393752.3 )
CYP17A1 c.666+35T>C ( ENST00000369887.4, ENST00000638190.1, ENST00000638272.1, ENST00000638971.1, ENST00000639393.1 )
CNNM2 c.*9241T>C ( ENST00000369878.9 )
CABCOCO1 c.817-1106C>T ( ENST00000330194.2, ENST00000648843.3 )
GRK4 p.Arg65His (p.R65H) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
GRK4 p.Arg65Leu (p.R65L) ( ENST00000345167.10, ENST00000398051.8, ENST00000398052.9, ENST00000504933.1 )
DRD1 c.-94G>A ( ENST00000393752.3 ) - Associated Disease
- Hypertensive disease
- Source Database
- DisGeNET
- Description
- Out of the 52 SNPs analyzed, four SNPs including rs5326 (DRD1), rs1004467 (CYP17A1), rs2960306 (GRK4), and rs11191548 (near NT5C2) in diabetic subjects and rs1530440 (C10orf107) in prediabetic subjects showed a modest association with hypertension (P = 0.0265, 0.0020, 0.0066, 0.0078, and 0.0015, resp; all were insignificant after Bonferroni correction).
- Pubmed
- 23133444
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2012
Drugs