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 )
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 )
Associated Disease
Hypertensive disease
Source Database
DisGeNET
Description
We also observed a significant association of 4 SNPs and the GRS with hypertension (ATP2B1 rs17249754: P = 0.02; CSK rs1378942: P = 0.02; CYP17A1 rs1004467: P = 0.02; MTHFR rs1801133: P = 0.03; GRS: P = 0.0004).
Pubmed
23591986
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0116396628910506
Year of publication
2013
Drugs