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rs386833505

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833505(C;G)
Make rs386833505(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149977699
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833505
ebirs386833505
HLIrs386833505
Exacrs386833505
Varsomers386833505
Maprs386833505
PheGenIrs386833505
hapmaprs386833505
1000 genomesrs386833505
hgdprs386833505
ensemblrs386833505
gopubmedrs386833505
geneviewrs386833505
scholarrs386833505
googlers386833505
pharmgkbrs386833505
gwascentralrs386833505
openSNPrs386833505
23andMers386833505
23andMe allrs386833505
SNP Nexus

SNPshotrs386833505
SNPdbers386833505
MSV3drs386833505
GWAS Ctlgrs386833505
Max Magnitude0
ClinVar
Risk rs386833505(G;G)
Alt rs386833505(G;G)
Reference rs386833505(C;C)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149357262C>G
CLNSRC ClinVar
CLNACC RCV000049433.1,


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