Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI 		0.010 GeneticVariation BEFREE In a patient with 2 TET2 mutations, the analysis of 5 blood samples at different phases of her disease showed the sequential occurrence of JAK2(V617F) and TET2 mutations concomitantly to the disease evolution. 19564637

2009