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rs386833497

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833497(-;-)
Make rs386833497(-;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position149981243
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833497
ebirs386833497
HLIrs386833497
Exacrs386833497
Varsomers386833497
Maprs386833497
PheGenIrs386833497
hapmaprs386833497
1000 genomesrs386833497
hgdprs386833497
ensemblrs386833497
gopubmedrs386833497
geneviewrs386833497
scholarrs386833497
googlers386833497
pharmgkbrs386833497
gwascentralrs386833497
openSNPrs386833497
23andMers386833497
23andMe allrs386833497
SNP Nexus

SNPshotrs386833497
SNPdbers386833497
MSV3drs386833497
GWAS Ctlgrs386833497
Max Magnitude0
ClinVar
Risk rs386833497(;)
Alt rs386833497(;)
Reference rs386833497(G;G)
Significance Probable-Pathogenic
Disease Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia Multiple epiphyseal dysplasia 4
Reversed 0
HGVS NC_000005.9:g.149360806delG
CLNSRC ClinVar
CLNACC RCV000049425.1, RCV000169577.1,


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