Annotation Detail
Information
- Associated Genes
- INTS12
- Associated Variants
-
INTS12 MUTATION
INTS12 MUTATION
THSD4 c.1152+97858G>C ( ENST00000261862.8, ENST00000355327.7 )
IREB2 p.Ala872= (p.A872=) ( ENST00000258886.13 )
HYKK c.337+256T>C ( ENST00000569878.5, ENST00000566332.5, ENST00000388988.9 )
FAM13A c.606-24587G>A ( ENST00000264344.10, ENST00000509094.5, ENST00000511976.5 )
ADCY2 c.570+43003G>T ( ENST00000338316.9 )
AGER p.Gly82Ser (p.G82S) ( ENST00000375055.6, ENST00000375067.7, ENST00000375069.7, ENST00000375070.7, ENST00000375076.9, ENST00000438221.6, ENST00000538695.2 )
THSD4 c.1152+97858G>C ( ENST00000261862.8, ENST00000355327.7 )
IREB2 p.Ala872= (p.A872=) ( ENST00000258886.13 )
HYKK c.337+256T>C ( ENST00000388988.9, ENST00000566332.5, ENST00000569878.5 )
FAM13A c.606-24587G>A ( ENST00000264344.10, ENST00000509094.5, ENST00000511976.5 )
ADCY2 c.570+43003G>T ( ENST00000338316.9 )
AGER p.Gly82Ser (p.G82S) ( ENST00000375055.6, ENST00000375067.7, ENST00000375069.7, ENST00000375070.7, ENST00000375076.9, ENST00000438221.6, ENST00000538695.2 ) - Associated Disease
- Chronic Obstructive Airway Disease
- Source Database
- DisGeNET
- Description
- We included three SNPs previously associated with COPD: rs7671167 (FAM13A), rs13180 (IREB2), and rs8034191 (CHRNA 3/5), and four SNPs associated with lung function in a genome-wide association study of general population samples: rs2070600 (AGER), rs11134242 (ADCY2), rs4316710 (THSD4), and rs17096090 (INTS12).
- Pubmed
- 22461431
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2012
Drugs