rs34377097, TBXA2R

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
CUI: C3279614
Disease: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
0.800 GeneticVariation UNIPROT Two thromboxane A2 receptor isoforms in human platelets. Opposite coupling to adenylyl cyclase with different sensitivity to Arg60 to Leu mutation. 8613548 1996
BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
CUI: C3279614
Disease: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
0.800 GeneticVariation UNIPROT Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. 7929844 1994
BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
CUI: C3279614
Disease: BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO
0.800 SusceptibilityMutation CLINVAR
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
0.010 GeneticVariation BEFREE Here we identify a single amino acid substitution (Arg60-->Leu) in the first cytoplasmic loop of the TXA2 receptor in a dominantly inherited bleeding disorder characterized by defective platelet response to TXA2. 7929844 1994