Gene: PTH1R ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1027263198
rs1027263198
PTH1R
0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376

2008
dbSNP: rs121434601
rs121434601
PTH1R
0.010 GeneticVariation BEFREE In agreement, a functionally deleterious mutation in PTHR1 (p.R150C) was identified in enchondromas from two of six unrelated patients with enchondromatosis. 18559376

2008
dbSNP: rs200197785
rs200197785
PTH1R
0.010 GeneticVariation BEFREE Two mutations (p.G121E, p.A122T) were present only in enchondromas, and one (p.R255H) in both enchondroma and leukocyte DNA. 18559376

2008