Annotation Detail
Information
- Associated Genes
- CSK
- 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 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376585.6, ENST00000376583.7, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
STK39 c.628+2383G>A ( ENST00000355999.5, ENST00000697205.1 )
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 )
MTHFR p.Ala263Val (p.A263V) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000423400.7, ENST00000641407.1, ENST00000641820.1 )
STK39 c.628+2383G>A ( ENST00000355999.5, ENST00000697205.1 )
rs16998073 - Associated Disease
- Hypertensive disease
- Source Database
- DisGeNET
- Description
- The present study confirmed the significant association of ATP2B1 rs17249754 with risk of hypertension among Chinese children, but failed to replicate the association of CSK rs1378942, MTHFR rs1801133, CYP17A1 rs1004467, STK39 rs3754777 and FGF5 rs16998073 with BP/risk of hypertension.
- Pubmed
- 23759979
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0116396628910506
- Year of publication
- 2013
Drugs