Annotation Detail

Information
Associated Genes
TSBP1
Associated Variants
TSBP1 p.Lys400Gln (p.K400Q) ( ENST00000375015.8, ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000533191.6 )
TSBP1 c.349+1790A>G ( ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000375015.8, ENST00000533191.6 )
TSBP1 c.259+508G>A ( ENST00000375015.8, ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000533191.6 )
TSBP1 c.218-83T>C ( ENST00000375015.8, ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000533191.6 )
TSBP1 c.218-2599C>T ( ENST00000375015.8, ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000533191.6 )
TSBP1 p.Cys30Arg (p.C30R) ( ENST00000375015.8, ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000533191.6 )
TSBP1 p.Lys400Gln (p.K400Q) ( ENST00000375015.8, ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000533191.6 )
TSBP1 c.349+1790A>G ( ENST00000375015.8, ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000533191.6 )
TSBP1 c.259+508G>A ( ENST00000375015.8, ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000533191.6 )
TSBP1 c.218-83T>C ( ENST00000375015.8, ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000533191.6 )
TSBP1 c.218-2599C>T ( ENST00000375015.8, ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000533191.6 )
TSBP1 p.Cys30Arg (p.C30R) ( ENST00000375015.8, ENST00000442822.6, ENST00000447241.6, ENST00000527965.5, ENST00000533191.6 )
Associated Disease
Diabetes Mellitus, Insulin-Dependent
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.00710109593580609
Year of publication
NA
Drugs