SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: Degenerative polyarthritis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764256352
rs764256352
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
CUI: C0029408
Disease:
Degenerative polyarthritis 		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