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rs111033220

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033220(C;T)
Make rs111033220(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107690203
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033220
ebirs111033220
HLIrs111033220
Exacrs111033220
Varsomers111033220
Maprs111033220
PheGenIrs111033220
hapmaprs111033220
1000 genomesrs111033220
hgdprs111033220
ensemblrs111033220
gopubmedrs111033220
geneviewrs111033220
scholarrs111033220
googlers111033220
pharmgkbrs111033220
gwascentralrs111033220
openSNPrs111033220
23andMers111033220
23andMe allrs111033220
SNP Nexus

SNPshotrs111033220
SNPdbers111033220
MSV3drs111033220
GWAS Ctlgrs111033220
Max Magnitude0
ClinVar
Risk rs111033220(T;T)
Alt rs111033220(T;T)
Reference rs111033220(C;C)
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.107330648C>T
CLNSRC ClinVar
CLNACC RCV000036430.2,


[PMID 119323] Effect of mannitol on the traumatized spinal cord. Microangiography, blood flow patterns, and electrophysiology.


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


[PMID 10700480] Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.


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


[PMID 11919333] Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.


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