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: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.040 GeneticVariation BEFREE Among 50 PMF patients, CALR mutations were detected in 11 (22.0%) and were also associated with higher platelet counts (P=0.035) and trended to a lower rate of cytogenetic abnormalities (P=0.059) than the JAK2 V617F mutation. 26130950

2015
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.040 GeneticVariation BEFREE Cytogenetic abnormalities and molecular markers such as JAK2 V617F, ASXL1, and CALR mutations have also been identified as prognostic variables. 25189726

2014
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.040 GeneticVariation BEFREE We studied 176 patients, all enrolled on prospective treatment trials, for secondary chromosomal aberrations and mutations in N-/KRAS, KIT, FLT3, and JAK2 (V617F) genes. 23115274

2013
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.040 GeneticVariation BEFREE Translocation t(1;9) is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displaying the JAK2 V617F mutation. 21376394

2011