Annotation Detail
Information
- Associated Genes
- ABO
- Associated Variants
-
ABO c.28+1349G>A
(
ENST00000538324.2,
ENST00000611156.4,
ENST00000679909.1 )
ABO c.28+1349G>A ( ENST00000538324.2, ENST00000611156.4, ENST00000679909.1 ) - Associated Disease
- duodenal ulcer
- Source Database
- DisGeNET
- Description
- The T allele of rs2294008 encodes a translation initiation codon upstream of the reported site and changes protein localization from the cytoplasm to the cell surface. rs505922 at ABO was also associated with duodenal ulcer in a recessive model (OR = 1.32; P = 1.15 × 10(-10)).
- Pubmed
- 22387998
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.243452799466923
- Year of publication
- 2012
Drugs