Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159947
rs724159947
ETV6
0.710 GeneticVariation BEFREE Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets variant 6), c.641C>T, encoding a p.Pro214Leu substitution in the central domain, segregating with thrombocytopenia and elevated MCV. 25807284

2015
dbSNP: rs724159947
rs724159947
ETV6
T 0.710 GeneticVariation CLINVAR Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. 25581430

2015