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rs111033307

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;T) 3 carrier of a Pendred Syndrome allele
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome7
Position107694473
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033307
ebirs111033307
HLIrs111033307
Exacrs111033307
Varsomers111033307
Maprs111033307
PheGenIrs111033307
hapmaprs111033307
1000 genomesrs111033307
hgdprs111033307
ensemblrs111033307
gopubmedrs111033307
geneviewrs111033307
scholarrs111033307
googlers111033307
pharmgkbrs111033307
gwascentralrs111033307
openSNPrs111033307
23andMers111033307
23andMe allrs111033307
SNP Nexus

SNPshotrs111033307
SNPdbers111033307
MSV3drs111033307
GWAS Ctlgrs111033307
Max Magnitude3

rs111033307, also known as L445W, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.

OMIM605646
Desc
Variant0018
Relatedalso
ClinVar
Risk rs111033307(G;G)
Alt rs111033307(G;G)
Reference rs111033307(T;T)
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.107334918T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005100.3, RCV000036437.3,


[PMID 96181] Linkage between a gene for a serum protein and the gene for the Ig kappa light chain in rabbits.


[PMID 10602116] Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.


[PMID 11748854] Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.


[PMID 18285825] A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.


[PMID 18813951OA-icon.png] Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.


[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?