Annotation Detail
Information
- Associated Genes
- NADSYN1
- Associated Variants
-
rs1790349
NADSYN1 c.146+1233G>T ( ENST00000319023.7 )
rs1790349
NADSYN1 c.146+1233G>T ( ENST00000319023.7 ) - Associated Disease
- Cardiovascular Diseases
- Source Database
- DisGeNET
- Description
- Recent genome-wide association studies have identified the rs1790349 and rs12785878 single-nucleotide polymorphisms (SNPs), present in the NADSYN1/DHCR7 locus, as an influential player on circulating 25-hydroxyvitamin D [25(OH)D] levels, which itself has been linked to various diseases including cardiovascular disease (CVD).
- Pubmed
- 24642724
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs