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rs386833503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833503(G;T)
Make rs386833503(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149977983
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833503
ebirs386833503
HLIrs386833503
Exacrs386833503
Varsomers386833503
Maprs386833503
PheGenIrs386833503
hapmaprs386833503
1000 genomesrs386833503
hgdprs386833503
ensemblrs386833503
gopubmedrs386833503
geneviewrs386833503
scholarrs386833503
googlers386833503
pharmgkbrs386833503
gwascentralrs386833503
openSNPrs386833503
23andMers386833503
23andMe allrs386833503
SNP Nexus

SNPshotrs386833503
SNPdbers386833503
MSV3drs386833503
GWAS Ctlgrs386833503
Max Magnitude0
ClinVar
Risk rs386833503(T;T)
Alt rs386833503(T;T)
Reference rs386833503(G;G)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149357546G>T
CLNSRC ClinVar
CLNACC RCV000049431.1,


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