Annotation Detail
Information
- Associated Genes
- SLC19A1
- Associated Variants
-
MTHFR c.*2669C>G, C1orf167 p.Cys1271Ser (p.C1271S)
(
ENST00000376583.7,
ENST00000433342.6,
ENST00000688073.1,
ENST00000376585.6,
ENST00000376592.6,
ENST00000376590.9 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
MTRR p.His595Tyr (p.H595Y) ( ENST00000264668.6, ENST00000440940.7 )
MTHFR c.*2669C>G, C1orf167 p.Cys1271Ser (p.C1271S) ( ENST00000376583.7, ENST00000376585.6, ENST00000376590.9, ENST00000376592.6, ENST00000433342.6, ENST00000688073.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
MTRR p.His595Tyr (p.H595Y) ( ENST00000264668.6, ENST00000440940.7 ) - Associated Disease
- Malignant neoplasm of breast
- Source Database
- DisGeNET
- Description
- We found three single-nucleotide polymorphisms in those genes associated with LINE-1 methylation: SLC19A1 (rs1051266); MTRR (rs10380) and MTHFR (rs1537514), one of which was also associated with breast cancer risk: MTHFR (rs1537514).
- Pubmed
- 24130171
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00562433444356567
- Year of publication
- 2014
Drugs