rs527297896, GFI1B

N. diseases: 2
Disease: Macrothrombocytopenia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
0.010 GeneticVariation BEFREE Results The DNA-binding GFI1B variant C168F, which is predicted to disrupt the first non-DNA-binding zinc-finger domain, is associated with macrothrombocytopenia without α-granule deficiency or bleeding symptoms. 28880435 2017