Gene: COL2A1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555165501
rs1555165501
COL2A1 ; LOC105369752
T 0.700 GeneticVariation CLINVAR Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI). 1971141

1990