Annotation Detail

Information
Associated Genes
LHCGR
Associated Variants
THADA c.4059-13560T>G ( ENST00000405006.8, ENST00000405975.7 )
THADA c.3744+4464G>A ( ENST00000405006.8, ENST00000405975.7 )
ENSG00000279956 c.161+4491T>C, LHCGR c.161+4491T>C ( ENST00000294954.12, ENST00000401907.5, ENST00000403273.5, ENST00000405626.5, ENST00000402114.6 )
DENND1A c.303-7710C>T ( ENST00000373618.1, ENST00000373620.7, ENST00000373624.6, ENST00000394215.7 )
DENND1A c.183-5111T>C ( ENST00000373618.1, ENST00000373620.7, ENST00000373624.6, ENST00000394215.7 )
THADA c.4059-13560T>G ( ENST00000405006.8, ENST00000405975.7 )
THADA c.3744+4464G>A ( ENST00000405006.8, ENST00000405975.7 )
ENSG00000279956 c.161+4491T>C, LHCGR c.161+4491T>C ( ENST00000294954.12, ENST00000401907.5, ENST00000403273.5, ENST00000405626.5, ENST00000402114.6 )
DENND1A c.303-7710C>T ( ENST00000373618.1, ENST00000373620.7, ENST00000373624.6, ENST00000394215.7 )
DENND1A c.183-5111T>C ( ENST00000373618.1, ENST00000373620.7, ENST00000373624.6, ENST00000394215.7 )
Associated Disease
Ovarian Diseases
Source Database
DisGeNET
Description
In a previous genome-wide association study, the SNP variants rs13429458, rs12478601, rs2479106, rs10818854 and rs13405728 in the THADA, DENND1A and LHCGR genes were identified as being independently associated with PCOS.
Pubmed
23208300
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2013
Drugs