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rs386833494

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAC;AAAC) 0 common in clinvar
(CAAA;CAAA) 0 common in clinvar
Make rs386833494(-;-)
Make rs386833494(-;AAAC)
ReferenceGRCh38 38.1/141
Chromosome5
Position149980835
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833494
ebirs386833494
HLIrs386833494
Exacrs386833494
Varsomers386833494
Maprs386833494
PheGenIrs386833494
hapmaprs386833494
1000 genomesrs386833494
hgdprs386833494
ensemblrs386833494
gopubmedrs386833494
geneviewrs386833494
scholarrs386833494
googlers386833494
pharmgkbrs386833494
gwascentralrs386833494
openSNPrs386833494
23andMers386833494
23andMe allrs386833494
SNP Nexus

SNPshotrs386833494
SNPdbers386833494
MSV3drs386833494
GWAS Ctlgrs386833494
Max Magnitude0
ClinVar
Risk rs386833494(;)
Alt rs386833494(;)
Reference rs386833494(CAAA;CAAA)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149360398_149360401delAAAC
CLNSRC ClinVar
CLNACC RCV000049422.1,


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