Annotation Detail
Information
- Associated Genes
- SLC19A1
- Associated Variants
-
SLC19A1 MUTATION
SLC19A1 MUTATION
COL18A1 c.5055-418G>A ( ENST00000567670.5, ENST00000355480.10, ENST00000359759.8, ENST00000651438.1 )
SLC19A1 c.1294-1573G>A ( ENST00000311124.9, ENST00000380010.8, ENST00000485649.3, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
rs283895
COL18A1 c.5055-418G>A ( ENST00000567670.5, ENST00000355480.10, ENST00000359759.8, ENST00000651438.1 )
SLC19A1 c.1294-1573G>A ( ENST00000311124.9, ENST00000380010.8, ENST00000485649.3, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
rs283895 - Associated Disease
- adenoma
- Source Database
- DisGeNET
- Description
- Five SNPs in the SLC19A1 (RFC1) gene: rs1051266 (G80A), rs283895, rs2236484, rs12482346, and rs2838958 were associated with adenoma risk after correction for multiple testing (all corrected p values ≤ 0.043).
- Pubmed
- 21274745
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.12027144187208
- Year of publication
- 2011
Drugs