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rs386833501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs386833501(-;-)
Make rs386833501(-;TT)
ReferenceGRCh38 38.1/141
Chromosome5
Position149981713
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833501
ebirs386833501
HLIrs386833501
Exacrs386833501
Varsomers386833501
Maprs386833501
PheGenIrs386833501
hapmaprs386833501
1000 genomesrs386833501
hgdprs386833501
ensemblrs386833501
gopubmedrs386833501
geneviewrs386833501
scholarrs386833501
googlers386833501
pharmgkbrs386833501
gwascentralrs386833501
openSNPrs386833501
23andMers386833501
23andMe allrs386833501
SNP Nexus

SNPshotrs386833501
SNPdbers386833501
MSV3drs386833501
GWAS Ctlgrs386833501
Max Magnitude0
ClinVar
Risk rs386833501(;)
Alt rs386833501(;)
Reference rs386833501(TT;TT)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149361276_149361277delTT
CLNSRC ClinVar
CLNACC RCV000049429.1,


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