Annotation Detail

Information
Associated Genes
CFHR4
Associated Variants
CFHR4 c.59-4315T>C ( ENST00000608469.6, ENST00000251424.8, ENST00000367416.6 )
CFHR4 c.998-270G>C ( ENST00000251424.8, ENST00000608469.6, ENST00000367416.6 )
CFHR4 c.1180+292A>G ( ENST00000367416.6, ENST00000608469.6, ENST00000251424.8 )
CFHR4 c.1540+1076C>G ( ENST00000251424.8, ENST00000608469.6, ENST00000367416.6 )
CFHR4 c.1541-159T>G ( ENST00000367416.6, ENST00000608469.6, ENST00000251424.8 )
CFHR4 SNV
rs4915318
CFHR4 SNV
CFHR4 c.59-4315T>C ( ENST00000251424.8, ENST00000367416.6, ENST00000608469.6 )
CFHR4 c.998-270G>C ( ENST00000251424.8, ENST00000367416.6, ENST00000608469.6 )
CFHR4 c.1180+292A>G ( ENST00000251424.8, ENST00000367416.6, ENST00000608469.6 )
CFHR4 c.1540+1076C>G ( ENST00000251424.8, ENST00000367416.6, ENST00000608469.6 )
CFHR4 c.1541-159T>G ( ENST00000251424.8, ENST00000367416.6, ENST00000608469.6 )
CFHR4 SNV
rs4915318
CFHR4 SNV
Associated Disease
age related macular degeneration
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.0073725378078864
Year of publication
NA
Drugs