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rs386833504

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833504(A;A)
Make rs386833504(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position149978055
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833504
ebirs386833504
HLIrs386833504
Exacrs386833504
Varsomers386833504
Maprs386833504
PheGenIrs386833504
hapmaprs386833504
1000 genomesrs386833504
hgdprs386833504
ensemblrs386833504
gopubmedrs386833504
geneviewrs386833504
scholarrs386833504
googlers386833504
pharmgkbrs386833504
gwascentralrs386833504
openSNPrs386833504
23andMers386833504
23andMe allrs386833504
SNP Nexus

SNPshotrs386833504
SNPdbers386833504
MSV3drs386833504
GWAS Ctlgrs386833504
Max Magnitude0
ClinVar
Risk rs386833504(A;A)
Alt rs386833504(A;A)
Reference Rs386833504(C;C)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149357618C>A
CLNSRC ClinVar
CLNACC RCV000049432.1,


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