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rs200963884

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs200963884(C;C)
Make rs200963884(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149980292
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs200963884
ebirs200963884
HLIrs200963884
Exacrs200963884
Varsomers200963884
Maprs200963884
PheGenIrs200963884
hapmaprs200963884
1000 genomesrs200963884
hgdprs200963884
ensemblrs200963884
gopubmedrs200963884
geneviewrs200963884
scholarrs200963884
googlers200963884
pharmgkbrs200963884
gwascentralrs200963884
openSNPrs200963884
23andMers200963884
23andMe allrs200963884
SNP Nexus

SNPshotrs200963884
SNPdbers200963884
MSV3drs200963884
GWAS Ctlgrs200963884
Max Magnitude0
ClinVar
Risk rs200963884(C;C)
Alt rs200963884(C;C)
Reference rs200963884(G;G)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Reversed 0
HGVS NC_000005.9:g.149359855G>C
CLNSRC ClinVar
CLNACC RCV000049436.1, RCV000169177.1,


[PMID 7923357] The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.


[PMID 8702127] A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.


[PMID 8723100] A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.


[PMID 21155763] Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.