Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519802
rs1057519802
CSF1R
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		C 0.700 GeneticVariation CLINVAR Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1. 18971950

2009