Annotation Detail

Information
Associated Genes
VWF
Associated Variants
VWF p.Arg1853Ter (p.R1853*) ( ENST00000261405.10 )
VWF p.Arg1659Ter (p.R1659*) ( ENST00000261405.10 )
VWF p.Arg1205Leu (p.R1205L) ( ENST00000261405.10 )
VWF p.Arg1205His (p.R1205H) ( ENST00000261405.10 )
VWF p.Cys1149Arg (p.C1149R) ( ENST00000261405.10 )
VWF p.Arg854Gln (p.R854Q) ( ENST00000261405.10 )
VWF p.Arg760His (p.R760H) ( ENST00000261405.10 )
VWF p.Arg1853Ter (p.R1853*) ( ENST00000261405.10 )
VWF p.Arg1659Ter (p.R1659*) ( ENST00000261405.10 )
VWF p.Arg1205Leu (p.R1205L) ( ENST00000261405.10 )
VWF p.Arg1205His (p.R1205H) ( ENST00000261405.10 )
VWF p.Cys1149Arg (p.C1149R) ( ENST00000261405.10 )
VWF p.Arg854Gln (p.R854Q) ( ENST00000261405.10 )
VWF p.Arg760His (p.R760H) ( ENST00000261405.10 )
Associated Disease
von Willebrand Disease, Type 1
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.588968335442472
Year of publication
NA
Drugs