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rs111033311

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033311(C;C)
Make rs111033311(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107694402
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033311
ebirs111033311
HLIrs111033311
Exacrs111033311
Varsomers111033311
Maprs111033311
PheGenIrs111033311
hapmaprs111033311
1000 genomesrs111033311
hgdprs111033311
ensemblrs111033311
gopubmedrs111033311
geneviewrs111033311
scholarrs111033311
googlers111033311
pharmgkbrs111033311
gwascentralrs111033311
openSNPrs111033311
23andMers111033311
23andMe allrs111033311
SNP Nexus

SNPshotrs111033311
SNPdbers111033311
MSV3drs111033311
GWAS Ctlgrs111033311
Max Magnitude0
ClinVar
Risk rs111033311(C;C)
Alt rs111033311(C;C)
Reference rs111033311(G;G)
Significance 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.107334847G>C
CLNSRC ClinVar
CLNACC RCV000036433.2, RCV000169533.1,


[PMID 14679580] Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.


[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.