Annotation Detail

Information
Associated Genes
STON1-GTF2A1L
Associated Variants
ENSG00000279956 c.161+4491T>C, LHCGR c.161+4491T>C ( ENST00000294954.12, ENST00000401907.5, ENST00000403273.5, ENST00000405626.5, ENST00000402114.6 )
ENSG00000279956 c.161+4491T>C, LHCGR c.161+4491T>C ( ENST00000294954.12, ENST00000401907.5, ENST00000403273.5, ENST00000405626.5, ENST00000402114.6 )
Associated Disease
polycystic ovary syndrome
Source Database
DisGeNET
Description
Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
Pubmed
21151128
Original source reporting the Gene Disease association
GWASCAT
DisGENET score for the Gene Disease association
0.12
Year of publication
2011
Drugs