Annotation Detail
Information
- Associated Genes
- SLC19A1
- Associated Variants
-
SLC19A1 MUTATION
SLC19A1 MUTATION
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 )
SLC19A1 p.His27Arg (p.H27R) ( ENST00000311124.9, ENST00000380010.8, ENST00000567670.5, ENST00000650808.1 ) - Associated Disease
- spina bifida
- Source Database
- DisGeNET
- Description
- Although this study did not find an increased spina bifida risk for infants who were heterozygous or homozygous for RFC1 A80G, it did reveal modest evidence for a gene-nutrient interaction between infant homozygosity for the RFC1 G80/G80 genotype and maternal periconceptional intake of vitamins containing folic acid on the risk of spina bifida.
- Pubmed
- 11857541
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00800129794383184
- Year of publication
- 2002
Drugs