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rs111033254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs111033254(C;C)
Make rs111033254(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107698085
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033254
ebirs111033254
HLIrs111033254
Exacrs111033254
Varsomers111033254
Maprs111033254
PheGenIrs111033254
hapmaprs111033254
1000 genomesrs111033254
hgdprs111033254
ensemblrs111033254
gopubmedrs111033254
geneviewrs111033254
scholarrs111033254
googlers111033254
pharmgkbrs111033254
gwascentralrs111033254
openSNPrs111033254
23andMers111033254
23andMe allrs111033254
SNP Nexus

SNPshotrs111033254
SNPdbers111033254
MSV3drs111033254
GWAS Ctlgrs111033254
Max Magnitude0
OMIM605646
Desc
Variant0025
Relatedalso
ClinVar
Risk rs111033254(C;C)
Alt rs111033254(C;C)
Reference rs111033254(T;T)
Significance Other
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.107338530T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005107.5, RCV000036449.3,


[PMID 165700] Getting it all together: coordinator for continuing care.


[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 12788906] Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.


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


[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.