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rs386833500

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833500(-;-)
Make rs386833500(-;A)
ReferenceGRCh38 38.1/141
Chromosome5
Position149981576
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833500
ebirs386833500
HLIrs386833500
Exacrs386833500
Varsomers386833500
Maprs386833500
PheGenIrs386833500
hapmaprs386833500
1000 genomesrs386833500
hgdprs386833500
ensemblrs386833500
gopubmedrs386833500
geneviewrs386833500
scholarrs386833500
googlers386833500
pharmgkbrs386833500
gwascentralrs386833500
openSNPrs386833500
23andMers386833500
23andMe allrs386833500
SNP Nexus

SNPshotrs386833500
SNPdbers386833500
MSV3drs386833500
GWAS Ctlgrs386833500
Max Magnitude0
ClinVar
Risk rs386833500(;)
Alt rs386833500(;)
Reference rs386833500(A;A)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149361139delA
CLNSRC ClinVar
CLNACC RCV000049428.1,


[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.