Disease: Macrothrombocytopenia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908063
rs121908063
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C2751260
Disease:
Macrothrombocytopenia 		T 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs121908065
rs121908065
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C2751260
Disease:
Macrothrombocytopenia 		0.010 GeneticVariation BEFREE However, some years ago it was shown that the monoallelic c.515C>T transition in the GPIBA gene (Bolzano mutation) was responsible for macrothrombocytopenia in a few Italian patients. 21933849 2012