Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281860279
rs281860279
CSF1R
0.710 GeneticVariation BEFREE Functional analyses of CSF1R mutant p.R782H (identified in this study) and p.M875T (previously observed in HDLS), showed a similar loss of CSF1R autophosphorylation of selected tyrosine residues in the kinase domain for both mutations when compared with wild-type CSF1R. 23408870

2013
dbSNP: rs281860279
rs281860279
CSF1R
G 0.710 CausalMutation CLINVAR