Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912889
rs121912889
COL2A1
0.800 GeneticVariation UNIPROT Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. 15643621

2005
dbSNP: rs121912889
rs121912889
COL2A1
0.800 GeneticVariation UNIPROT Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. 14729840

2004
dbSNP: rs121912889
rs121912889
COL2A1
0.800 GeneticVariation UNIPROT Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. 10745044

2000
dbSNP: rs121912889
rs121912889
COL2A1
C 0.800 CausalMutation CLINVAR

dbSNP: rs121912874
rs121912874
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912893
rs121912893
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs794727261
rs794727261
COL2A1
T 0.700 CausalMutation CLINVAR