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rs386833502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833502(-;-)
Make rs386833502(-;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position149977907
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833502
ebirs386833502
HLIrs386833502
Exacrs386833502
Varsomers386833502
Maprs386833502
PheGenIrs386833502
hapmaprs386833502
1000 genomesrs386833502
hgdprs386833502
ensemblrs386833502
gopubmedrs386833502
geneviewrs386833502
scholarrs386833502
googlers386833502
pharmgkbrs386833502
gwascentralrs386833502
openSNPrs386833502
23andMers386833502
23andMe allrs386833502
SNP Nexus

SNPshotrs386833502
SNPdbers386833502
MSV3drs386833502
GWAS Ctlgrs386833502
Max Magnitude0
ClinVar
Risk rs386833502(;)
Alt rs386833502(;)
Reference rs386833502(C;C)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149357470delC
CLNSRC ClinVar
CLNACC RCV000049430.1,


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