Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833498

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833498(-;-)
Make rs386833498(-;A)
ReferenceGRCh38 38.1/141
Chromosome5
Position149981317
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833498
ebirs386833498
HLIrs386833498
Exacrs386833498
Varsomers386833498
Maprs386833498
PheGenIrs386833498
hapmaprs386833498
1000 genomesrs386833498
hgdprs386833498
ensemblrs386833498
gopubmedrs386833498
geneviewrs386833498
scholarrs386833498
googlers386833498
pharmgkbrs386833498
gwascentralrs386833498
openSNPrs386833498
23andMers386833498
23andMe allrs386833498
SNP Nexus

SNPshotrs386833498
SNPdbers386833498
MSV3drs386833498
GWAS Ctlgrs386833498
Max Magnitude0
ClinVar
Risk rs386833498(;)
Alt rs386833498(;)
Reference rs386833498(A;A)
Significance Other
Disease Diastrophic dysplasia Atelosteogenesis type 2 Achondrogenesis
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia Atelosteogenesis type 2 Achondrogenesis, type IB
Reversed 0
HGVS NC_000005.9:g.149360880delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000004302.6, RCV000004303.4, RCV000023567.4,


[PMID 7923357] The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.


[PMID 8702127] A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.


[PMID 8723100] A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.