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rs386833493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833493(C;G)
Make rs386833493(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149980750
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833493
ebirs386833493
HLIrs386833493
Exacrs386833493
Varsomers386833493
Maprs386833493
PheGenIrs386833493
hapmaprs386833493
1000 genomesrs386833493
hgdprs386833493
ensemblrs386833493
gopubmedrs386833493
geneviewrs386833493
scholarrs386833493
googlers386833493
pharmgkbrs386833493
gwascentralrs386833493
openSNPrs386833493
23andMers386833493
23andMe allrs386833493
SNP Nexus

SNPshotrs386833493
SNPdbers386833493
MSV3drs386833493
GWAS Ctlgrs386833493
Max Magnitude0
ClinVar
Risk rs386833493(G,T;G,T)
Alt rs386833493(G,T;G,T)
Reference rs386833493(C;C)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149360313C>T
CLNSRC ClinVar
CLNACC RCV000049421.1,


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