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rs386833499

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833499(-;-)
Make rs386833499(-;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149981569
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833499
ebirs386833499
HLIrs386833499
Exacrs386833499
Varsomers386833499
Maprs386833499
PheGenIrs386833499
hapmaprs386833499
1000 genomesrs386833499
hgdprs386833499
ensemblrs386833499
gopubmedrs386833499
geneviewrs386833499
scholarrs386833499
googlers386833499
pharmgkbrs386833499
gwascentralrs386833499
openSNPrs386833499
23andMers386833499
23andMe allrs386833499
SNP Nexus

SNPshotrs386833499
SNPdbers386833499
MSV3drs386833499
GWAS Ctlgrs386833499
Max Magnitude0
ClinVar
Risk rs386833499(;)
Alt rs386833499(;)
Reference rs386833499(T;T)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149361132delT
CLNSRC ClinVar
CLNACC RCV000049427.1,


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