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rs111033257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033257(A;A)
Make rs111033257(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107700162
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033257
ebirs111033257
HLIrs111033257
Exacrs111033257
Varsomers111033257
Maprs111033257
PheGenIrs111033257
hapmaprs111033257
1000 genomesrs111033257
hgdprs111033257
ensemblrs111033257
gopubmedrs111033257
geneviewrs111033257
scholarrs111033257
googlers111033257
pharmgkbrs111033257
gwascentralrs111033257
openSNPrs111033257
23andMers111033257
23andMe allrs111033257
SNP Nexus

SNPshotrs111033257
SNPdbers111033257
MSV3drs111033257
GWAS Ctlgrs111033257
Max Magnitude0
ClinVar
Risk rs111033257(A;A)
Alt rs111033257(A;A)
Reference rs111033257(G;G)
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.107340607G>A
CLNSRC ClinVar
CLNACC RCV000036454.2,


[PMID 192049] Substance P and primary afferent transmission.


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


[PMID 14508505] Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.


[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 15720248] Pathogenetics of the human SLC26 transporters.


[PMID 16950989] Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.