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rs111033303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033303(G;T)
Make rs111033303(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107674970
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033303
ebirs111033303
HLIrs111033303
Exacrs111033303
Varsomers111033303
Maprs111033303
PheGenIrs111033303
hapmaprs111033303
1000 genomesrs111033303
hgdprs111033303
ensemblrs111033303
gopubmedrs111033303
geneviewrs111033303
scholarrs111033303
googlers111033303
pharmgkbrs111033303
gwascentralrs111033303
openSNPrs111033303
23andMers111033303
23andMe allrs111033303
SNP Nexus

SNPshotrs111033303
SNPdbers111033303
MSV3drs111033303
GWAS Ctlgrs111033303
Max Magnitude0
OMIM605646
Desc
Variant0009
Relatedalso
ClinVar
Risk rs111033303(T;T)
Alt rs111033303(T;T)
Reference rs111033303(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.107315415G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005090.3, RCV000036501.2,


[PMID 9618166] Two frequent missense mutations in Pendred syndrome.


[PMID 10190331] Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.


[PMID 11317356] Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.


[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.