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rs111033348

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033348(C;T)
Make rs111033348(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107674326
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033348
ebirs111033348
HLIrs111033348
Exacrs111033348
Varsomers111033348
Maprs111033348
PheGenIrs111033348
hapmaprs111033348
1000 genomesrs111033348
hgdprs111033348
ensemblrs111033348
gopubmedrs111033348
geneviewrs111033348
scholarrs111033348
googlers111033348
pharmgkbrs111033348
gwascentralrs111033348
openSNPrs111033348
23andMers111033348
23andMe allrs111033348
SNP Nexus

SNPshotrs111033348
SNPdbers111033348
MSV3drs111033348
GWAS Ctlgrs111033348
Max Magnitude0
OMIM605646
Desc
Variant0019
Relatedalso
ClinVar
Risk rs111033348(T;T)
Alt rs111033348(T;T)
Reference rs111033348(C;C)
Significance Pathogenic
Disease Pendred's syndrome Enlarged vestibular aqueduct syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome Enlarged vestibular aqueduct syndrome
Reversed 0
HGVS NC_000007.13:g.107314771C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005101.3, RCV000036499.2, RCV000225014.1,


[PMID 10878664] Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.


[PMID 15355436] Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.