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 )
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 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- In the obese group, 3 SNPs and the GRS were significantly associated with higher SBP (ATP2B1 rs17249754: P = 0.02; CSK rs1378942: P = 0.003; CYP17A1 rs1004467: P = 0.04; GRS: P = 0.0002).
- Pubmed
- 23591986
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2013
Drugs