Gene: DDR2 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964863
rs121964863
DDR2
0.810 GeneticVariation BEFREE We found that all SMED-SL missense mutants were defective in collagen-induced receptor activation and that the three previously reported mutants (p.T713I, p.I726R and p.R752C) were retained in the endoplasmic reticulum. 20223752

2010
dbSNP: rs121964865
rs121964865
DDR2
0.810 GeneticVariation BEFREE We found that all SMED-SL missense mutants were defective in collagen-induced receptor activation and that the three previously reported mutants (p.T713I, p.I726R and p.R752C) were retained in the endoplasmic reticulum. 20223752

2010
dbSNP: rs397514747
rs397514747
DDR2
0.810 GeneticVariation BEFREE Here we report a novel DDR2 missense mutation, c.337G>A (p.E113K), that causes SMED-SL in two siblings in the United Arab Emirates. 20223752

2010