Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912889
rs121912889
COL2A1
0.710 GeneticVariation BEFREE However, the identification of the Y1391C mutation in this patient with disproportionate short stature made the diagnosis of spondyloperipheral dysplasia (SPD) more probable. 17726487

2007
dbSNP: rs121912889
rs121912889
COL2A1
C 0.710 CausalMutation CLINVAR

dbSNP: rs121912886
rs121912886
COL2A1
A 0.700 GeneticVariation CLINVAR Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045

2001
dbSNP: rs121912874
rs121912874
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912880
rs121912880
COL2A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912890
rs121912890
COL2A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912893
rs121912893
COL2A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1565664375
rs1565664375
COL2A1
G 0.700 CausalMutation CLINVAR

dbSNP: rs794727261
rs794727261
COL2A1
T 0.700 CausalMutation CLINVAR