rs764256352, SLC26A2

N. diseases: 3
Disease: Congenital Dysplasia Of The Hip ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Dysplasia Of The Hip
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
0.010 GeneticVariation BEFREE Follow-up with whole-exome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co-segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis. 30740902 2019