Annotation Detail

Information
Associated Genes
LCT
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
Lactase persistence
Source Database
DisGeNET
Description
A substitution of C to T at position -13910 bp upstream the LCT gene (rs4988235), in a regulatory region, was found to be strongly associated with the lactase persistence phenotype in North-European populations.
Pubmed
18605960
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0153202969683359
Year of publication
2008
Drugs