SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: Diastrophic dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763198695
rs763198695
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2
CUI: C0220726
Disease:
Diastrophic dysplasia 		C 0.700 GeneticVariation CLINVAR Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. 20592910 2010