Annotation Detail

Information
Associated Genes
PTGS2
Associated Variants
PTGS2 c.*2427C>T ( ENST00000680451.1, ENST00000367468.10 )
PTGS2 c.*2427C>G ( ENST00000680451.1, ENST00000367468.10 )
PTGS2 c.*2427C>A ( ENST00000680451.1, ENST00000367468.10 )
PTGS2 c.*427T>C ( ENST00000680451.1, ENST00000367468.10 )
NR_125801.1(PACERR):n.536C>G
PTGS2 c.*2427C>T ( ENST00000367468.10, ENST00000680451.1 )
PTGS2 c.*2427C>G ( ENST00000367468.10, ENST00000680451.1 )
PTGS2 c.*2427C>A ( ENST00000367468.10, ENST00000680451.1 )
PTGS2 c.*427T>C ( ENST00000367468.10, ENST00000680451.1 )
NR_125801.1(PACERR):n.536C>G
Associated Disease
esophagitis
Source Database
DisGeNET
Description
For esophagitis risk, nine SNPs were associated with a 1.5- to 4-fold increase in risk, including three PTGS2 (COX2) variants: rs20417 (HR:1.93, 95% CI:1.10-3.39), rs5275 (HR:1.58, 95% CI:1.09-2.27), and rs689470 (HR:3.38, 95% CI:1.09-10.49).
Pubmed
20811626
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00108576748832121
Year of publication
2010
Drugs