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rs386833492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833492(C;C)
Make rs386833492(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position149960981
GeneSLC26A2
is asnp
is mentioned by
dbSNPrs386833492
ebirs386833492
HLIrs386833492
Exacrs386833492
Varsomers386833492
Maprs386833492
PheGenIrs386833492
hapmaprs386833492
1000 genomesrs386833492
hgdprs386833492
ensemblrs386833492
gopubmedrs386833492
geneviewrs386833492
scholarrs386833492
googlers386833492
pharmgkbrs386833492
gwascentralrs386833492
openSNPrs386833492
23andMers386833492
23andMe allrs386833492
SNP Nexus

SNPshotrs386833492
SNPdbers386833492
MSV3drs386833492
GWAS Ctlgrs386833492
Max Magnitude0
ClinVar
Risk rs386833492(C;C)
Alt rs386833492(C;C)
Reference rs386833492(T;T)
Significance Pathogenic
Disease Diastrophic dysplasia
Variation info
Gene SLC26A2
CLNDBN Diastrophic dysplasia
Reversed 0
HGVS NC_000005.9:g.149340544T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004312.4,


[PMID 10482955] Identification of the Finnish founder mutation for diastrophic dysplasia (DTD).


[PMID 21077202] Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family.