Annotation Detail

Information
Associated Genes
PRRC2A
Associated Variants
rs4788102 ( ENST00000322610.12 )
rs29941
SEC16B c.1881+177A>G ( ENST00000308284.11 )
PCSK1 p.Ser690Thr (p.S690T) ( ENST00000311106.8, ENST00000508626.5 )
rs2844479
rs4788102 ( ENST00000322610.12 )
rs29941
SEC16B c.1881+177A>G ( ENST00000308284.11 )
PCSK1 p.Ser690Thr (p.S690T) ( ENST00000311106.8, ENST00000508626.5 )
rs2844479
Associated Disease
obesity
Source Database
DisGeNET
Description
Of five studied variants, only two (SEC16B rs10913469, SH2B1 rs4788102) were nominally associated with indices of adiposity and obesity risk in girls and only SEC16B rs10913469 in children at puberty (p < 0·05), while no statistical associations was found for three other variants (PCSK1rs6235, KCTD15 rs29941, BAT2 rs2844479).
Pubmed
23121087
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00290991572276264
Year of publication
2012
Drugs