Annotation Detail

Information
Associated Genes
B3GLCT
Associated Variants
B3GLCT c.271-1835T>C ( ENST00000343307.5 )
REST c.982+414G>T ( ENST00000309042.12, ENST00000622863.4, ENST00000640168.2, ENST00000640343.2, ENST00000675105.1, ENST00000675341.1 )
B3GLCT c.271-1835T>C ( ENST00000343307.5 )
REST c.982+414G>T ( ENST00000309042.12, ENST00000622863.4, ENST00000640168.2, ENST00000640343.2, ENST00000675105.1, ENST00000675341.1 )
Associated Disease
age related macular degeneration
Source Database
DisGeNET
Description
Rs13278062 in TNFRSF10A, rs1713985 in REST-C4ORF14-POLR2B-IGFBP7 and rs9542236 in B3GALTL were not found to be associated with AMD (all P>0.05).
Pubmed
23868022
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00263847385068233
Year of publication
2013
Drugs