Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0271979
Disease: Thalassemia Intermedia
Thalassemia Intermedia 		0.010 GeneticVariation BEFREE To our knowledge, this study is the first to determine the status of JAK2 V617F mutation in thalassemia intermedia patients and expands the international published literature on JAK2. 18781401

2009