Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893924
rs104893924
SLC26A2
A 0.700 CausalMutation 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: rs104893915
rs104893915
SLC26A2
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 21155763

2011
dbSNP: rs104893919
rs104893919
SLC26A2
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 21155763

2011
dbSNP: rs104893915
rs104893915
SLC26A2
T 0.700 CausalMutation CLINVAR Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 20219950

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: rs104893915
rs104893915
SLC26A2
T 0.700 CausalMutation 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 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: rs121908077
rs121908077
SLC26A2
C 0.700 CausalMutation 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 Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 12525546

2003
dbSNP: rs386833507
rs386833507
SLC26A2
T 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
dbSNP: rs786204675
rs786204675
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
dbSNP: rs121908077
rs121908077
SLC26A2
C 0.700 CausalMutation CLINVAR Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 10482955

1999
dbSNP: rs386833492
rs386833492
SLC26A2
C 0.700 CausalMutation CLINVAR Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 10482955

1999
dbSNP: rs121908077
rs121908077
SLC26A2
C 0.700 CausalMutation CLINVAR Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 9637425

1998
dbSNP: rs104893919
rs104893919
SLC26A2
T 0.700 CausalMutation CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239

1996
dbSNP: rs121908077
rs121908077
SLC26A2
C 0.700 CausalMutation CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239

1996
dbSNP: rs386833498
rs386833498
SLC26A2
T 0.700 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: rs386833498
rs386833498
SLC26A2
T 0.700 CausalMutation CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239

1996
dbSNP: rs786204675
rs786204675
SLC26A2
A 0.700 GeneticVariation CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239

1996
dbSNP: rs1420691965
rs1420691965
TRIP11
C 0.700 CausalMutation CLINVAR

dbSNP: rs1429820082
rs1429820082
TRIP11
C 0.700 CausalMutation CLINVAR

dbSNP: rs149079426
rs149079426
TRIP11
A 0.700 CausalMutation CLINVAR

dbSNP: rs1566843321
rs1566843321
TRIP11
C 0.700 CausalMutation CLINVAR

dbSNP: rs1566859649
rs1566859649
TRIP11
C 0.700 CausalMutation CLINVAR