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rs111033316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033316(A;G)
Make rs111033316(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107696036
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033316
ebirs111033316
HLIrs111033316
Exacrs111033316
Varsomers111033316
Maprs111033316
PheGenIrs111033316
hapmaprs111033316
1000 genomesrs111033316
hgdprs111033316
ensemblrs111033316
gopubmedrs111033316
geneviewrs111033316
scholarrs111033316
googlers111033316
pharmgkbrs111033316
gwascentralrs111033316
openSNPrs111033316
23andMers111033316
23andMe allrs111033316
SNP Nexus

SNPshotrs111033316
SNPdbers111033316
MSV3drs111033316
GWAS Ctlgrs111033316
Max Magnitude0
ClinVar
Risk rs111033316(G;G)
Alt rs111033316(G;G)
Reference rs111033316(A;A)
Significance Probable-Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107336481A>G
CLNSRC ClinVar
CLNACC RCV000036445.2,


[PMID 15689455OA-icon.png] SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.


[PMID 19204907OA-icon.png] Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?