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rs386833508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GATGGGC;GATGGGC) 0 common in clinvar
(GCGATGG;GCGATGG) 0 common in clinvar
Make rs386833508(-;-)
Make rs386833508(-;GATGGGC)
ReferenceGRCh38 38.1/141
Chromosome5
Position149980298
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833508
ebirs386833508
HLIrs386833508
Exacrs386833508
Varsomers386833508
Maprs386833508
PheGenIrs386833508
hapmaprs386833508
1000 genomesrs386833508
hgdprs386833508
ensemblrs386833508
gopubmedrs386833508
geneviewrs386833508
scholarrs386833508
googlers386833508
pharmgkbrs386833508
gwascentralrs386833508
openSNPrs386833508
23andMers386833508
23andMe allrs386833508
SNP Nexus

SNPshotrs386833508
SNPdbers386833508
MSV3drs386833508
GWAS Ctlgrs386833508
Max Magnitude0
ClinVar
Risk rs386833508(;)
Alt rs386833508(;)
Reference rs386833508(GCGATGG;GCGATGG)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149359861_149359867delGATGGGC
CLNSRC ClinVar
CLNACC RCV000049437.1,


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