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rs111033308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033308(A;A)
Make rs111033308(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107695984
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033308
ebirs111033308
HLIrs111033308
Exacrs111033308
Varsomers111033308
Maprs111033308
PheGenIrs111033308
hapmaprs111033308
1000 genomesrs111033308
hgdprs111033308
ensemblrs111033308
gopubmedrs111033308
geneviewrs111033308
scholarrs111033308
googlers111033308
pharmgkbrs111033308
gwascentralrs111033308
openSNPrs111033308
23andMers111033308
23andMe allrs111033308
SNP Nexus

SNPshotrs111033308
SNPdbers111033308
MSV3drs111033308
GWAS Ctlgrs111033308
Max Magnitude0
ClinVar
Risk rs111033308(A;A)
Alt rs111033308(A;A)
Reference rs111033308(G;G)
Significance 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.107336429G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005085.3, RCV000036444.2, RCV000169242.1,


[PMID 9500541] A mutation in PDS causes non-syndromic recessive deafness.

[PMID 10861298] Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

[PMID 14679580] Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.

[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 18310264] Heterogeneity in the processing defect of SLC26A4 mutants.