Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520016
rs1057520016
JAK2 ; INSL6
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis 		0.010 GeneticVariation BEFREE To our knowledge, this is the first case of ET caused by JAK2-T875N mutation with a family history of thrombocytosis and cerebral infarction. 31428969

2019