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rs111033199

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of Pendred Syndrome allele
(T;T) 5 Pendred Syndrome
ReferenceGRCh38 38.1/141
Chromosome7
Position107672245
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033199
ebirs111033199
HLIrs111033199
Exacrs111033199
Varsomers111033199
Maprs111033199
PheGenIrs111033199
hapmaprs111033199
1000 genomesrs111033199
hgdprs111033199
ensemblrs111033199
gopubmedrs111033199
geneviewrs111033199
scholarrs111033199
googlers111033199
pharmgkbrs111033199
gwascentralrs111033199
openSNPrs111033199
23andMers111033199
23andMe allrs111033199
SNP Nexus

SNPshotrs111033199
SNPdbers111033199
MSV3drs111033199
GWAS Ctlgrs111033199
Max Magnitude5

rs111033199, also known as V138F, is a SNP in the SLC26A4 gene associated with the hearing loss condition known as Pendred Syndrome.

OMIM605646
Desc
Variant0024
Relatedalso
ClinVar
Risk rs111033199(T;T)
Alt rs111033199(T;T)
Reference rs111033199(G;G)
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.107312690G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005106.4, RCV000036493.3,


[PMID 1278890] Little evidence to suggest end to physician shortage.


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


[PMID 9618167] Molecular analysis of the PDS gene in Pendred syndrome.


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


[PMID 11375792] Clinical and molecular analysis of three Mexican families with Pendred's syndrome.


[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.