Gene: RASGRP2 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777529
rs587777529
RASGRP2
0.800 GeneticVariation UNIPROT Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis. 28762304

2018
dbSNP: rs587777529
rs587777529
RASGRP2
0.800 GeneticVariation UNIPROT Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp). 28726538

2018
dbSNP: rs587777529
rs587777529
RASGRP2
0.800 GeneticVariation UNIPROT Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction. 27235135

2016
dbSNP: rs587777529
rs587777529
RASGRP2
0.800 GeneticVariation UNIPROT Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. 24958846

2014
dbSNP: rs767965347
rs767965347
RASGRP2
0.700 GeneticVariation UNIPROT Marked bleeding diathesis in patients with platelet dysfunction due to a novel mutation in RASGRP2, encoding CalDAG-GEFI (p.Gly305Asp). 28726538

2018
dbSNP: rs767965347
rs767965347
RASGRP2
0.700 GeneticVariation UNIPROT Identification of two novel mutations in RASGRP2 affecting platelet CalDAG-GEFI expression and function in patients with bleeding diathesis. 28762304

2018
dbSNP: rs767965347
rs767965347
RASGRP2
0.700 GeneticVariation UNIPROT Novel mutations in RASGRP2, which encodes CalDAG-GEFI, abrogate Rap1 activation, causing platelet dysfunction. 27235135

2016
dbSNP: rs767965347
rs767965347
RASGRP2
0.700 GeneticVariation UNIPROT Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding. 24958846

2014