Annotation Detail
Information
- Associated Genes
- SLC30A8
- Associated Variants
-
MTNR1B c.223+5596C>G
(
ENST00000257068.3 )
FTO c.46-25592G>T ( ENST00000471389.6, ENST00000637001.1, ENST00000637969.1, ENST00000636218.1, ENST00000636491.1 )
THADA p.Thr1187Ala (p.T1187A) ( ENST00000405006.8, ENST00000405975.7 )
rs4607517
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000427715.2, ENST00000456015.7, ENST00000519688.5, ENST00000521243.5 )
MTNR1B c.223+5596C>G ( ENST00000257068.3 )
FTO c.46-25592G>T ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
THADA p.Thr1187Ala (p.T1187A) ( ENST00000405006.8, ENST00000405975.7 )
rs4607517
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000456015.7, ENST00000519688.5, ENST00000521243.5, ENST00000427715.2 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- Most notably, 5 SNPs from 5 genes [body mass index (BMI), hip circumference: rs3751812/FTO; fasting plasma glucose, hemoglobin A1c: rs4607517/GCK; very-low-density lipoprotein: rs10830963/MTNR1B; BMI: rs13266634/SLC30A8, and total cholesterol, low-density lipoprotein: rs7578597/THADA] were significantly associated with obesity, glycemic, and lipid phenotypes when using the multiple testing significance threshold of 0.0015.
- Pubmed
- 25060389
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.007915421552047
- Year of publication
- 2014
Drugs