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rs111033305

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033305(A;A)
Make rs111033305(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107690200
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033305
ebirs111033305
HLIrs111033305
Exacrs111033305
Varsomers111033305
Maprs111033305
PheGenIrs111033305
hapmaprs111033305
1000 genomesrs111033305
hgdprs111033305
ensemblrs111033305
gopubmedrs111033305
geneviewrs111033305
scholarrs111033305
googlers111033305
pharmgkbrs111033305
gwascentralrs111033305
openSNPrs111033305
23andMers111033305
23andMe allrs111033305
SNP Nexus

SNPshotrs111033305
SNPdbers111033305
MSV3drs111033305
GWAS Ctlgrs111033305
Max Magnitude0
ClinVar
Risk rs111033305(A,C;A,C)
Alt rs111033305(A,C;A,C)
Reference rs111033305(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.107330645G>A; NC_000007.13:g.107330645G>C
CLNSRC ClinVar
CLNACC RCV000036428.3, RCV000169222.1, RCV000036429.2,


[PMID 1960865] [Angiotensin converting enzyme inhibitor].


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


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


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


[PMID 16053392] Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome.


[PMID 17766716] High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.


[PMID 12676893OA-icon.png] Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.