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rs386833496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833496(A;A)
Make rs386833496(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149981044
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833496
ebirs386833496
HLIrs386833496
Exacrs386833496
Varsomers386833496
Maprs386833496
PheGenIrs386833496
hapmaprs386833496
1000 genomesrs386833496
hgdprs386833496
ensemblrs386833496
gopubmedrs386833496
geneviewrs386833496
scholarrs386833496
googlers386833496
pharmgkbrs386833496
gwascentralrs386833496
openSNPrs386833496
23andMers386833496
23andMe allrs386833496
SNP Nexus

SNPshotrs386833496
SNPdbers386833496
MSV3drs386833496
GWAS Ctlgrs386833496
Max Magnitude0
ClinVar
Risk rs386833496(A;A)
Alt rs386833496(A;A)
Reference rs386833496(G;G)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149360607G>A
CLNSRC ClinVar
CLNACC RCV000049424.1,


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