Annotation Detail
Information
- Associated Genes
- NR1H3
- Associated Variants
-
NR1H3 c.62-4667A>G
(
ENST00000616973.4,
ENST00000407404.5,
ENST00000405576.5,
ENST00000395397.7,
ENST00000481889.6 )
NR1H3 c.62-2425C>T ( ENST00000616973.4, ENST00000405576.5, ENST00000407404.5, ENST00000395397.7, ENST00000481889.6 )
NR1H3 c.62-689G>A ( ENST00000616973.4, ENST00000441012.7, ENST00000405576.5, ENST00000407404.5, ENST00000481889.6, ENST00000467728.5, ENST00000395397.7, ENST00000405853.7 )
NR1H3 p.Ser105= (p.S105=) ( ENST00000405576.5, ENST00000407404.5, ENST00000395397.7, ENST00000405853.7, ENST00000527949.1, ENST00000481889.6, ENST00000467728.5, ENST00000616973.4, ENST00000441012.7 )
NR1H2 c.748-90A>G ( ENST00000253727.10, ENST00000411902.6, ENST00000593926.5, ENST00000598168.5, ENST00000599105.5, ENST00000652203.1 )
NR1H2 c.927+181T>C ( ENST00000253727.10, ENST00000411902.6, ENST00000593926.5, ENST00000598168.5, ENST00000599105.5, ENST00000652203.1 )
NR1H3 c.62-4667A>G ( ENST00000395397.7, ENST00000405576.5, ENST00000407404.5, ENST00000481889.6, ENST00000616973.4 )
NR1H3 c.62-2425C>T ( ENST00000395397.7, ENST00000405576.5, ENST00000407404.5, ENST00000481889.6, ENST00000616973.4 )
NR1H3 c.62-689G>A ( ENST00000395397.7, ENST00000405576.5, ENST00000405853.7, ENST00000407404.5, ENST00000441012.7, ENST00000467728.5, ENST00000481889.6, ENST00000616973.4 )
NR1H3 p.Ser105= (p.S105=) ( ENST00000395397.7, ENST00000405576.5, ENST00000405853.7, ENST00000407404.5, ENST00000441012.7, ENST00000467728.5, ENST00000481889.6, ENST00000527949.1, ENST00000616973.4 )
NR1H2 c.748-90A>G ( ENST00000253727.10, ENST00000411902.6, ENST00000593926.5, ENST00000598168.5, ENST00000599105.5, ENST00000652203.1 )
NR1H2 c.927+181T>C ( ENST00000253727.10, ENST00000411902.6, ENST00000593926.5, ENST00000598168.5, ENST00000599105.5, ENST00000652203.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- One thousand five hundred seventy-four subjects of European ancestry with elevated risk for type 2 diabetes were genotyped for the two NR1H2 single nucleotide polymorphisms (SNPs) rs2248949 and rs1405655 and for the four NR1H3 SNPs rs11039149, rs3758673, rs12221497 and rs2279238, and association studies with metabolic traits were performed.
- Pubmed
- 21042792
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00318135759484294
- Year of publication
- 2011
Drugs