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rs386833506

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833506(A;A)
Make rs386833506(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149978148
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833506
ebirs386833506
HLIrs386833506
Exacrs386833506
Varsomers386833506
Maprs386833506
PheGenIrs386833506
hapmaprs386833506
1000 genomesrs386833506
hgdprs386833506
ensemblrs386833506
gopubmedrs386833506
geneviewrs386833506
scholarrs386833506
googlers386833506
pharmgkbrs386833506
gwascentralrs386833506
openSNPrs386833506
23andMers386833506
23andMe allrs386833506
SNP Nexus

SNPshotrs386833506
SNPdbers386833506
MSV3drs386833506
GWAS Ctlgrs386833506
Max Magnitude0
ClinVar
Risk rs386833506(A;A)
Alt rs386833506(A;A)
Reference rs386833506(G;G)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149357711G>A
CLNSRC ClinVar
CLNACC RCV000049434.1,


[PMID 11241838] Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.