Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149698066
rs149698066
BLVRB
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.010 GeneticVariation BEFREE In this study, platelet transcriptome sequencing and extended thrombocytosis cohort analyses identified a single loss-of-function mutation (BLVRB(S111L)) causally associated with clonal and nonclonal disorders of enhanced platelet production. 27207795

2016