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rs386833495

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833495(-;-)
Make rs386833495(-;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149980987
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833495
ebirs386833495
HLIrs386833495
Exacrs386833495
Varsomers386833495
Maprs386833495
PheGenIrs386833495
hapmaprs386833495
1000 genomesrs386833495
hgdprs386833495
ensemblrs386833495
gopubmedrs386833495
geneviewrs386833495
scholarrs386833495
googlers386833495
pharmgkbrs386833495
gwascentralrs386833495
openSNPrs386833495
23andMers386833495
23andMe allrs386833495
SNP Nexus

SNPshotrs386833495
SNPdbers386833495
MSV3drs386833495
GWAS Ctlgrs386833495
Max Magnitude0
ClinVar
Risk rs386833495(;)
Alt rs386833495(;)
Reference rs386833495(T;T)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149360550delT
CLNSRC ClinVar
CLNACC RCV000049423.1,


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