Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908903
rs121908903
CCN6
0.810 GeneticVariation UNIPROT WISP3 mutation associated with pseudorheumatoid dysplasia. 29092958

2018
dbSNP: rs121908903
rs121908903
CCN6
0.810 GeneticVariation UNIPROT WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198. 27436824

2016
dbSNP: rs121908903
rs121908903
CCN6
0.810 GeneticVariation UNIPROT A novel compound WISP3 mutation in a Chinese family with progressive pseudorheumatoid dysplasia. 25794430

2015
dbSNP: rs121908903
rs121908903
CCN6
0.810 GeneticVariation UNIPROT Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia. 25738435

2015
dbSNP: rs121908903
rs121908903
CCN6
0.810 GeneticVariation UNIPROT Novel and recurrent mutations in WISP3 and an atypical phenotype. 25988854

2015
dbSNP: rs121908903
rs121908903
CCN6
0.810 GeneticVariation UNIPROT Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. 22987568

2012
dbSNP: rs121908903
rs121908903
CCN6
0.810 GeneticVariation UNIPROT Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia. 22685593

2012
dbSNP: rs121908903
rs121908903
CCN6
0.810 GeneticVariation UNIPROT Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia. 19064006

2009
dbSNP: rs121908903
rs121908903
CCN6
0.810 GeneticVariation BEFREE We found that two probands carried a deletion (840delT) mutation in maternal allele, which leads to truncated WISP3 protein missing 43 residues in C terminus; and a 1000T>C substitution in paternal allele, which was also passed on to four other members in the PPD kindred. 17483925

2007
dbSNP: rs121908903
rs121908903
CCN6
0.810 GeneticVariation UNIPROT Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect. 16152649

2005
dbSNP: rs121908903
rs121908903
CCN6
0.810 GeneticVariation UNIPROT Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. 10471507

1999
dbSNP: rs121908903
rs121908903
CCN6
C 0.810 CausalMutation CLINVAR

dbSNP: rs121908899
rs121908899
CCN6
0.800 GeneticVariation UNIPROT WISP3 mutation associated with pseudorheumatoid dysplasia. 29092958

2018
dbSNP: rs121908902
rs121908902
CCN6
0.800 GeneticVariation UNIPROT WISP3 mutation associated with pseudorheumatoid dysplasia. 29092958

2018
dbSNP: rs121908899
rs121908899
CCN6
0.800 GeneticVariation UNIPROT WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198. 27436824

2016
dbSNP: rs121908902
rs121908902
CCN6
0.800 GeneticVariation UNIPROT WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198. 27436824

2016
dbSNP: rs121908899
rs121908899
CCN6
0.800 GeneticVariation UNIPROT Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia. 25738435

2015
dbSNP: rs121908899
rs121908899
CCN6
0.800 GeneticVariation UNIPROT A novel compound WISP3 mutation in a Chinese family with progressive pseudorheumatoid dysplasia. 25794430

2015
dbSNP: rs121908899
rs121908899
CCN6
0.800 GeneticVariation UNIPROT Novel and recurrent mutations in WISP3 and an atypical phenotype. 25988854

2015
dbSNP: rs121908902
rs121908902
CCN6
0.800 GeneticVariation UNIPROT Novel and recurrent mutations in WISP3 and an atypical phenotype. 25988854

2015
dbSNP: rs121908902
rs121908902
CCN6
0.800 GeneticVariation UNIPROT Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia. 25738435

2015
dbSNP: rs121908902
rs121908902
CCN6
0.800 GeneticVariation UNIPROT A novel compound WISP3 mutation in a Chinese family with progressive pseudorheumatoid dysplasia. 25794430

2015
dbSNP: rs121908899
rs121908899
CCN6
0.800 GeneticVariation UNIPROT Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia. 22685593

2012
dbSNP: rs121908899
rs121908899
CCN6
0.800 GeneticVariation UNIPROT Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. 22987568

2012
dbSNP: rs121908902
rs121908902
CCN6
0.800 GeneticVariation UNIPROT Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia. 22987568

2012