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rs111033313

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033313(A;G)
Make rs111033313(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107683453
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033313
ebirs111033313
HLIrs111033313
Exacrs111033313
Varsomers111033313
Maprs111033313
PheGenIrs111033313
hapmaprs111033313
1000 genomesrs111033313
hgdprs111033313
ensemblrs111033313
gopubmedrs111033313
geneviewrs111033313
scholarrs111033313
googlers111033313
pharmgkbrs111033313
gwascentralrs111033313
openSNPrs111033313
23andMers111033313
23andMe allrs111033313
SNP Nexus

SNPshotrs111033313
SNPdbers111033313
MSV3drs111033313
GWAS Ctlgrs111033313
Max Magnitude0
ClinVar
Risk rs111033313(G;G)
Alt rs111033313(G;G)
Reference rs111033313(A;A)
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.107323898A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005112.5, RCV000036513.2, RCV000169120.1,


[PMID 14679] Selective chemical modification of Escherichia coli elongation factor G: butanedione modification of an arginine essential for nucleotide binding.


[PMID 10874637OA-icon.png] Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.


[PMID 11502831] Two Chinese families with Pendred's syndrome--radiological imaging of the ear and molecular analysis of the pendrin gene.


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


[PMID 14508505] Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.


[PMID 15679828] Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.