Annotation Detail
Information
- Associated Genes
- ATM
- Associated Variants
-
ATM c.-1149G>A
(
ENST00000601453.3,
ENST00000530958.5,
ENST00000532931.6,
ENST00000531525.3,
ENST00000683468.1,
ENST00000683914.2,
ENST00000675843.1,
ENST00000452508.7 )
ATM c.-1149G>A ( ENST00000452508.7, ENST00000530958.5, ENST00000531525.3, ENST00000532931.6, ENST00000601453.3, ENST00000675843.1, ENST00000683468.1, ENST00000683914.2 ) - Associated Disease
- Azoospermia, Nonobstructive
- Source Database
- DisGeNET
- Description
- rs189037, a functional variant in ATM gene promoter, is associated with idiopathic nonobstructive azoospermia.
- Pubmed
- 23993922
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs