Gene: RUNX1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569008655
rs1569008655
RUNX1
A 0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749

2019
dbSNP: rs1569061762
rs1569061762
RUNX1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1569061768
rs1569061768
RUNX1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs74315450
rs74315450
RUNX1
0.010 GeneticVariation BEFREE The first, carrying a missense R174Q mutation, which acts as a dominant-negative mutant, is associated with thrombocytopenia and leukemia, and the second, carrying a monoallelic gene deletion inducing a haploinsufficiency, presents only as thrombocytopenia. 25490895

2015
dbSNP: rs74315451
rs74315451
RUNX1 ; LOC112267915
0.010 GeneticVariation BEFREE We have identified a unique point mutation of the RUNX1 gene (A107P) in members of a family with autosomal dominant inheritance of thrombocytopenia. 12060124

2002