Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312907
rs869312907
COL2A1
0.810 GeneticVariation BEFREE We suggest that the p.Gly207Arg variant causes a distinct type II collagenopathy with features of PPRD and SED, Stanescu type. 26183434

2015
dbSNP: rs869312907
rs869312907
COL2A1
T 0.810 CausalMutation CLINVAR

dbSNP: rs869312907
rs869312907
COL2A1
0.810 GeneticVariation UNIPROT

dbSNP: rs121912874
rs121912874
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912893
rs121912893
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs760093841
rs760093841
COL2A1
G 0.700 CausalMutation CLINVAR

dbSNP: rs794727261
rs794727261
COL2A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1480620991
rs1480620991
COL2A1
0.010 GeneticVariation BEFREE Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type. 26183434

2015