Annotation Detail
Information
- Associated Genes
- SLC40A1
- Associated Variants
-
HAMP c.-84-498A>G
(
ENST00000598398.5 )
FTL p.Leu55= (p.L55=) ( ENST00000331825.11 )
NC_000020.11:g.6786464A>G
SLC40A1 c.44-24G>C ( ENST00000261024.7 )
HAMP c.-84-498A>G ( ENST00000598398.5 )
FTL p.Leu55= (p.L55=) ( ENST00000331825.11 )
NC_000020.11:g.6786464A>G
SLC40A1 c.44-24G>C ( ENST00000261024.7 ) - Associated Disease
- Hereditary hemochromatosis
- Source Database
- DisGeNET
- Description
- Our results make it likely the role of rs10421768, rs235756, rs2230267 and rs1439816 polymorphisms, respectively in HAMP, BMP2, FTL and SLC40A1 genes in HH expressivity.
- Pubmed
- 25976471
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00298586059288334
- Year of publication
- 2015
Drugs