Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519753
rs1057519753
JAK1
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		A 0.700 GeneticVariation CLINVAR Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. 21680795

2011
dbSNP: rs1057519753
rs1057519753
JAK1
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		A 0.700 GeneticVariation CLINVAR Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. 19838194

2009
dbSNP: rs1057519753
rs1057519753
JAK1
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		A 0.700 GeneticVariation CLINVAR Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers. 19139102

2009
dbSNP: rs1057519753
rs1057519753
JAK1
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		A 0.700 GeneticVariation CLINVAR JAK mutations in high-risk childhood acute lymphoblastic leukemia. 19470474

2009