Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912881
rs121912881
COL2A1
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.800 GeneticVariation UNIPROT Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. 16088915

2005
dbSNP: rs121912881
rs121912881
COL2A1
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.800 GeneticVariation UNIPROT Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. 7550321

1995