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rs386833509

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
(TC;TC) 0 common in clinvar
Make rs386833509(-;-)
Make rs386833509(-;CT)
ReferenceGRCh38 38.1/141
Chromosome5
Position149980499
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833509
ebirs386833509
HLIrs386833509
Exacrs386833509
Varsomers386833509
Maprs386833509
PheGenIrs386833509
hapmaprs386833509
1000 genomesrs386833509
hgdprs386833509
ensemblrs386833509
gopubmedrs386833509
geneviewrs386833509
scholarrs386833509
googlers386833509
pharmgkbrs386833509
gwascentralrs386833509
openSNPrs386833509
23andMers386833509
23andMe allrs386833509
SNP Nexus

SNPshotrs386833509
SNPdbers386833509
MSV3drs386833509
GWAS Ctlgrs386833509
Max Magnitude0
ClinVar
Risk rs386833509(;)
Alt rs386833509(;)
Reference rs386833509(TC;TC)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149360062_149360063delCT
CLNSRC ClinVar
CLNACC RCV000049438.1,


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