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rs386833507

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833507(G;T)
Make rs386833507(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149977707
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833507
ebirs386833507
HLIrs386833507
Exacrs386833507
Varsomers386833507
Maprs386833507
PheGenIrs386833507
hapmaprs386833507
1000 genomesrs386833507
hgdprs386833507
ensemblrs386833507
gopubmedrs386833507
geneviewrs386833507
scholarrs386833507
googlers386833507
pharmgkbrs386833507
gwascentralrs386833507
openSNPrs386833507
23andMers386833507
23andMe allrs386833507
SNP Nexus

SNPshotrs386833507
SNPdbers386833507
MSV3drs386833507
GWAS Ctlgrs386833507
Max Magnitude0
ClinVar
Risk rs386833507(T;T)
Alt rs386833507(T;T)
Reference rs386833507(G;G)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149357270G>T
CLNSRC ClinVar
CLNACC RCV000049435.1,


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