Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. 27065010

2016
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED). 24598000

2015
dbSNP: rs104893915
rs104893915
SLC26A2
0.750 GeneticVariation BEFREE This phenotype was intermediate between DTD and rMED, and both girls have a compound heterozygous mutations for the SLC26A2, a Finnish founder mutation (c.-26 + 2T>C), and R279W. 23840040

2013
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 21155763

2011
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 20219950

2010
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 21077202

2010
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 16642506

2006
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 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: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877

2004
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 12525546

2003
dbSNP: rs104893915
rs104893915
SLC26A2
0.750 GeneticVariation BEFREE The most frequent mutation, 862C>T (R279W), is a mild mutation giving the rMED phenotype when homozygous and mostly DTD when compounded; occurrence at a CpG dinucleotide and its panethnic distribution suggest independent recurrence. 11241838

2001
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 11565064

2001
dbSNP: rs104893915
rs104893915
SLC26A2
0.750 GeneticVariation BEFREE A homozygous R279W mutation was recently found in the diastrophic dysplasia sulfate transporter gene, DTDST, in a patient with MED who had a club foot and double-layered patella. 11565064

2001
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR Sulphate transporter gene mutations in apparently isolated club foot. 11303514

2001
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 10465113

1999
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 10482955

1999
dbSNP: rs104893915
rs104893915
SLC26A2
0.750 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
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. 9342225

1997
dbSNP: rs104893915
rs104893915
SLC26A2
0.750 GeneticVariation BEFREE The presence of the DTDST R279W mutation in a total of 11 patients with AO2 or DTD emphasizes the overlap between these conditions. 8931695

1996
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 8571951

1996
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.750 CausalMutation CLINVAR Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. 8931695

1996
dbSNP: rs121908078
rs121908078
SLC26A2
0.710 GeneticVariation BEFREE T512K is a second rare "Finnish" mutation that results in DLCD at homozygosity and in DTD when compounded with the milder, common Finnish mutation. 18708426

2008
dbSNP: rs104893920
rs104893920
SLC26A2
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
dbSNP: rs104893920
rs104893920
SLC26A2
G 0.710 CausalMutation CLINVAR

dbSNP: rs121908078
rs121908078
SLC26A2
A 0.710 CausalMutation CLINVAR