Annotation Detail
Information
- Associated Genes
- DEFB1
- Associated Variants
-
DEFB1 c.*87A>G
(
ENST00000297439.4 )
DEFB1 c.-20G>A ( ENST00000297439.4 )
DEFB1 c.-44G>C ( ENST00000297439.4 )
DEFB1 c.*87A>G ( ENST00000297439.4 )
DEFB1 c.-20G>A ( ENST00000297439.4 )
DEFB1 c.-44G>C ( ENST00000297439.4 ) - Associated Disease
- leprosy
- Source Database
- DisGeNET
- Description
- A study was done on the association of three single nucleotide polymorphisms (SNPs) in the beta-defensin 1 gene (DEFB1) - 668 C/G (-44 C/G or rs1800972; in 5' UTR), 692 A/G (-20 A/G or rs11362; in 5' UTR) and A1836G (rs1800971; in 3' UTR) - with leprosy susceptibility per se and clinical leprosy variants.
- Pubmed
- 19460328
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs