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rs111033205

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033205(C;C)
Make rs111033205(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107661726
GeneLOC286002, SLC26A4
is asnp
is mentioned by
dbSNPrs111033205
ebirs111033205
HLIrs111033205
Exacrs111033205
Varsomers111033205
Maprs111033205
PheGenIrs111033205
hapmaprs111033205
1000 genomesrs111033205
hgdprs111033205
ensemblrs111033205
gopubmedrs111033205
geneviewrs111033205
scholarrs111033205
googlers111033205
pharmgkbrs111033205
gwascentralrs111033205
openSNPrs111033205
23andMers111033205
23andMe allrs111033205
SNP Nexus

SNPshotrs111033205
SNPdbers111033205
MSV3drs111033205
GWAS Ctlgrs111033205
Max Magnitude0
OMIM605646
Desc
Variant0028
Relatedalso
ClinVar
Risk rs111033205(C,T;C,T)
Alt rs111033205(C,T;C,T)
Reference rs111033205(G;G)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome
Variation info
Gene SLC26A4-AS1 SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107302171G>C; NC_000007.13:g.107302171G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005111.3, RCV000036509.3, RCV000169251.1, RCV000036510.2,


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

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

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