Annotation Detail

Information
Associated Genes
ATG16L1
Associated Variants
rs2542151
PTPN2 c.69+7012T>C ( ENST00000309660.10, ENST00000327283.7, ENST00000353319.8, ENST00000591115.5, ENST00000645191.1, ENST00000646492.1 )
ATG16L1 c.1005+44G>A ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 )
ATG16L1 c.1254+852C>T ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 )
rs2542151
PTPN2 c.69+7012T>C ( ENST00000309660.10, ENST00000327283.7, ENST00000353319.8, ENST00000591115.5, ENST00000645191.1, ENST00000646492.1 )
ATG16L1 c.1005+44G>A ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 )
ATG16L1 c.1254+852C>T ( ENST00000347464.9, ENST00000373525.9, ENST00000392017.9, ENST00000392018.1, ENST00000392020.8 )
Associated Disease
ulcerative colitis
Source Database
DisGeNET
Description
Epistasis analysis showed weak epistasis between the ATG16L1 SNP rs2241879 and PTPN2 SNP rs2542151 (p = 0.024) in CD and between ATG16L1 SNP rs4663396 and PTPN2 SNP rs7234029 (p = 4.68×10⁻³) in UC.
Pubmed
22457781
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0328333300882941
Year of publication
2012
Drugs