Annotation Detail
Information
- Associated Genes
- ATP2B1
- Associated Variants
-
MYL2 c.402+245T>C
(
ENST00000713801.1,
ENST00000713803.1,
ENST00000548438.1,
ENST00000663220.1,
ENST00000713831.1,
ENST00000713804.1,
ENST00000713805.1,
ENST00000713800.1,
ENST00000713806.1,
ENST00000713828.1,
ENST00000228841.15,
ENST00000713827.1,
ENST00000713830.1,
ENST00000713829.1,
ENST00000713826.1 )
MYL2 c.-146-55982A>C ( ENST00000713826.1, ENST00000713829.1, ENST00000713828.1, ENST00000713800.1, ENST00000713806.1, ENST00000713805.1, ENST00000713831.1, ENST00000713801.1, ENST00000713803.1 )
HECTD4 c.177+1973A>T ( ENST00000377560.9, ENST00000682272.1, ENST00000550722.5 )
OAS3 c.*1398G>A ( ENST00000679493.1, ENST00000228928.12, ENST00000679354.1, ENST00000680044.1, ENST00000681346.1, ENST00000681497.1, ENST00000679483.1 )
ATP2B1 c.-221-10702C>T ( ENST00000551310.2, ENST00000705822.1, ENST00000428670.8, ENST00000359142.8 )
rs2093395
MYL2 c.402+245T>C ( ENST00000228841.15, ENST00000548438.1, ENST00000663220.1, ENST00000713800.1, ENST00000713801.1, ENST00000713803.1, ENST00000713804.1, ENST00000713805.1, ENST00000713806.1, ENST00000713826.1, ENST00000713827.1, ENST00000713828.1, ENST00000713829.1, ENST00000713830.1, ENST00000713831.1 )
MYL2 c.-146-55982A>C ( ENST00000713800.1, ENST00000713801.1, ENST00000713803.1, ENST00000713805.1, ENST00000713806.1, ENST00000713826.1, ENST00000713828.1, ENST00000713829.1, ENST00000713831.1 )
HECTD4 c.177+1973A>T ( ENST00000377560.9, ENST00000550722.5, ENST00000682272.1 )
OAS3 c.*1398G>A ( ENST00000228928.12, ENST00000679354.1, ENST00000679483.1, ENST00000679493.1, ENST00000680044.1, ENST00000681346.1, ENST00000681497.1 )
ATP2B1 c.-221-10702C>T ( ENST00000359142.8, ENST00000428670.8, ENST00000551310.2, ENST00000705822.1 )
rs2093395 - Associated Disease
- Hypertensive disease
- Source Database
- DisGeNET
- Description
- Five gene variants, rs11066280 (C12orf51), rs12229654 and rs3782889 (MYL2), rs2072134 (OAS3), rs2093395 (TREML2), and rs17249754 (ATP2B1), were found to be associated with hypertension mostly in men (P = 4.76 × 10(-14) to 4.46 × 10(-7) in the joint analysis); three SNPs (rs11066280, rs12229654, and rs3782889) remained significant after Bonferroni correction in an independent population.
- Pubmed
- 24142389
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.332996872251452
- Year of publication
- 2013
Drugs