Annotation Detail
Information
- Associated Genes
- ATXN2
- Associated Variants
-
ATXN2 c.252-14033G>A
(
ENST00000672613.1,
ENST00000535949.5,
ENST00000673283.1,
ENST00000673436.1,
ENST00000542287.6,
ENST00000616825.4,
ENST00000550104.5,
ENST00000673449.1,
ENST00000647305.1,
ENST00000673557.1,
ENST00000644883.1,
ENST00000643669.2,
ENST00000389153.10,
ENST00000608853.5 )
ATXN2 c.252-14033G>A ( ENST00000389153.10, ENST00000535949.5, ENST00000542287.6, ENST00000550104.5, ENST00000608853.5, ENST00000616825.4, ENST00000643669.2, ENST00000644883.1, ENST00000647305.1, ENST00000672613.1, ENST00000673283.1, ENST00000673436.1, ENST00000673449.1, ENST00000673557.1 ) - Associated Disease
- celiac disease
- Source Database
- DisGeNET
- Description
- One SNP (rs653178 at the SH2B3/ATXN2 locus) displayed study-wise statistically significant association with CAD with directionality consistent effects on celiac disease and CAD.
- Pubmed
- 25893417
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.127372537807886
- Year of publication
- 2015
Drugs