rs104893920, SLC26A2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
0.800 GeneticVariation UNIPROT Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239 1996
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
0.800 CausalMutation CLINVAR
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
0.710 GeneticVariation BEFREE The fetus affected by McAlister dysplasia we have studied is a compound heterozygote for mutations leading to R279W and N425D substitutions in the diastrophic dysplasia sulfate transporter. 9342225 1997
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
0.710 CausalMutation CLINVAR
De La Chapelle Dysplasia
CUI: C1850555
Disease: De La Chapelle Dysplasia
0.010 GeneticVariation BEFREE The fetus affected by McAlister dysplasia we have studied is a compound heterozygote for mutations leading to R279W and N425D substitutions in the diastrophic dysplasia sulfate transporter. 9342225 1997