rs1480620991, COL2A1

N. diseases: 2
Disease: Progressive pseudorheumatoid dysplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Progressive pseudorheumatoid dysplasia
CUI: C0432215
Disease: Progressive pseudorheumatoid dysplasia
0.010 GeneticVariation BEFREE In the first family, we performed whole-exome sequencing on three family members, two of whom have a PPRD-like phenotype, and identified a heterozygous variant (c.619G>A, p.Gly207Arg) in both affected individuals. 26183434 2015