Annotation Detail

Information
Associated Genes
OXTR
Associated Variants
MCM6 c.1917+326C>T ( ENST00000264156.3 )
MCM6 c.1917+326C>G ( ENST00000264156.3 )
MCM6 c.1917+326C>T ( ENST00000264156.3 )
MCM6 c.1917+326C>G ( ENST00000264156.3 )
Associated Disease
irritable bowel syndrome
Source Database
DisGeNET
Description
Genetic variants in the OXT promoter region, and in the OXTR gene in DNA samples from 131 rigorously evaluated patients with Irritable Bowel Syndrome (IBS), 408 homozygous subjects referred for lactase (LCT-13910 C>T, rs4988235) genotyping, and 299 asymptomatic blood donors were compared.
Pubmed
19943975
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00263847385068233
Year of publication
2009
Drugs