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rs111033306

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTG;CTG) 0 common in clinvar
(TGC;TGC) 0 common in clinvar
Make rs111033306(-;-)
Make rs111033306(-;TGC)
ReferenceGRCh38 38.1/141
Chromosome7
Position107694423
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033306
ebirs111033306
HLIrs111033306
Exacrs111033306
Varsomers111033306
Maprs111033306
PheGenIrs111033306
hapmaprs111033306
1000 genomesrs111033306
hgdprs111033306
ensemblrs111033306
gopubmedrs111033306
geneviewrs111033306
scholarrs111033306
googlers111033306
pharmgkbrs111033306
gwascentralrs111033306
openSNPrs111033306
23andMers111033306
23andMe allrs111033306
SNP Nexus

SNPshotrs111033306
SNPdbers111033306
MSV3drs111033306
GWAS Ctlgrs111033306
Max Magnitude0
ClinVar
Risk rs111033306(;)
Alt rs111033306(;)
Reference rs111033306(CTG;CTG)
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.107334868_107334870delTGC
CLNSRC ClinVar
CLNACC RCV000036434.3, RCV000169051.1,


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


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