Annotation Detail
Information
- Associated Genes
- CCHCR1
- Associated Variants
-
CYP17A1 c.666+35T>C
(
ENST00000638272.1,
ENST00000369887.4,
ENST00000638971.1,
ENST00000638190.1,
ENST00000639393.1 )
ATP2B1 c.-221-10702C>T ( ENST00000551310.2, ENST00000705822.1, ENST00000428670.8, ENST00000359142.8 )
CSK c.-66+2306C>A ( ENST00000439220.6, ENST00000220003.14 )
rs16998073
CYP17A1 c.666+35T>C ( ENST00000369887.4, ENST00000638190.1, ENST00000638272.1, ENST00000638971.1, ENST00000639393.1 )
ATP2B1 c.-221-10702C>T ( ENST00000359142.8, ENST00000428670.8, ENST00000551310.2, ENST00000705822.1 )
CSK c.-66+2306C>A ( ENST00000220003.14, ENST00000439220.6 )
rs16998073 - Associated Disease
- Hypertensive disease
- Source Database
- DisGeNET
- Description
- In contrast, in inactive group, two polymorphisms and genetic risk score were significantly associated with SBP (rs17249754: β = 1.26, 95% confidence interval (CI) 0.61-1.90, p < 0.001; rs1004467: β = 0.68, 95%CI 0.03-1.32, p = 0.039; genetic risk score: β = 1.54, 95%CI 0.74-2.33, p < 0.001); three polymorphisms and genetic risk score were significantly associated with hypertension (rs17249754: odds ratio (OR) = 1.27, 95%CI 1.08-1.49, p = 0.004; rs1378942: OR = 1.25, 95%CI 1.00-1.57, p = 0.050 (marginally significant); rs16998073: OR = 1.17, 95%CI 1.01-1.37, p = 0.044; genetic risk score: OR = 1.38, 95%CI 1.13-1.68, p = 0.001).
- Pubmed
- 23102448
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00217153497664243
- Year of publication
- 2012
Drugs