Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912877
rs121912877
COL2A1
0.800 GeneticVariation UNIPROT The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia. 8863156

1996
dbSNP: rs121912877
rs121912877
COL2A1
0.800 GeneticVariation UNIPROT A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. 7874117

1994
dbSNP: rs121912877
rs121912877
COL2A1
T 0.800 CausalMutation CLINVAR

dbSNP: rs1565686170
rs1565686170
COL2A1
G 0.700 GeneticVariation CLINVAR Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia. 23188137

2013
dbSNP: rs121912874
rs121912874
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912893
rs121912893
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs587776847
rs587776847
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs794727261
rs794727261
COL2A1
T 0.700 CausalMutation CLINVAR