rs121912895, COL2A1

N. diseases: 1
Disease: Strudwick syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Strudwick syndrome
CUI: C0700635
Disease: Strudwick syndrome
0.800 GeneticVariation UNIPROT Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. 16088915 2005
Strudwick syndrome
CUI: C0700635
Disease: Strudwick syndrome
0.800 GeneticVariation UNIPROT Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. 7550321 1995
Strudwick syndrome
CUI: C0700635
Disease: Strudwick syndrome
0.800 CausalMutation CLINVAR