Gene: SLC26A2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517513
rs1057517513
SLC26A2
C 0.700 GeneticVariation CLINVAR Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish. 26375458

2015
dbSNP: rs104893918
rs104893918
SLC26A2
T 0.700 GeneticVariation CLINVAR Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 21922596

2012
dbSNP: rs104893924
rs104893924
SLC26A2
A 0.700 GeneticVariation CLINVAR Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 21922596

2012
dbSNP: rs104893919
rs104893919
SLC26A2
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 21155763

2011
dbSNP: rs104893918
rs104893918
SLC26A2
T 0.700 GeneticVariation CLINVAR New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 21077204

2010
dbSNP: rs104893924
rs104893924
SLC26A2
A 0.700 CausalMutation CLINVAR Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. 20525296

2010
dbSNP: rs104893924
rs104893924
SLC26A2
A 0.700 GeneticVariation CLINVAR Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. 20525296

2010
dbSNP: rs104893924
rs104893924
SLC26A2
A 0.700 CausalMutation CLINVAR New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 21077204

2010
dbSNP: rs104893924
rs104893924
SLC26A2
A 0.700 GeneticVariation CLINVAR New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 21077204

2010
dbSNP: rs386833497
rs386833497
SLC26A2
A 0.700 GeneticVariation CLINVAR Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. 20525296

2010
dbSNP: rs386833497
rs386833497
SLC26A2
A 0.700 GeneticVariation CLINVAR New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 21077204

2010
dbSNP: rs763198695
rs763198695
SLC26A2
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
dbSNP: rs104893919
rs104893919
SLC26A2
T 0.700 CausalMutation CLINVAR A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 18925670

2008
dbSNP: rs104893918
rs104893918
SLC26A2
T 0.700 GeneticVariation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877

2004
dbSNP: rs104893919
rs104893919
SLC26A2
T 0.700 CausalMutation CLINVAR Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. 15316973

2004
dbSNP: rs104893924
rs104893924
SLC26A2
A 0.700 GeneticVariation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877

2004
dbSNP: rs104893924
rs104893924
SLC26A2
A 0.700 CausalMutation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877

2004
dbSNP: rs386833497
rs386833497
SLC26A2
A 0.700 GeneticVariation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877

2004
dbSNP: rs104893924
rs104893924
SLC26A2
A 0.700 GeneticVariation CLINVAR Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 12525546

2003
dbSNP: rs104893924
rs104893924
SLC26A2
A 0.700 GeneticVariation CLINVAR Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 12966518

2003
dbSNP: rs104893924
rs104893924
SLC26A2
A 0.700 CausalMutation CLINVAR Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 12966518

2003
dbSNP: rs386833497
rs386833497
SLC26A2
A 0.700 GeneticVariation CLINVAR Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 12966518

2003
dbSNP: rs104893918
rs104893918
SLC26A2
T 0.700 GeneticVariation CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 11448940

2001
dbSNP: rs104893919
rs104893919
SLC26A2
T 0.700 CausalMutation CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 11448940

2001
dbSNP: rs104893924
rs104893924
SLC26A2
A 0.700 GeneticVariation CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 11241838

2001