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rs111033314

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs111033314(A;G)
Make rs111033314(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107689203
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033314
dbSNP (classic)rs111033314
ClinGenrs111033314
ebirs111033314
HLIrs111033314
Exacrs111033314
Gnomadrs111033314
Varsomers111033314
LitVarrs111033314
Maprs111033314
PheGenIrs111033314
Biobankrs111033314
1000 genomesrs111033314
hgdprs111033314
ensemblrs111033314
geneviewrs111033314
scholarrs111033314
googlers111033314
pharmgkbrs111033314
gwascentralrs111033314
openSNPrs111033314
23andMers111033314
SNPshotrs111033314
SNPdbers111033314
MSV3drs111033314
GWAS Ctlgrs111033314
Max Magnitude0
ClinVar
Risk rs111033314(G;G) rs111033314(T;T)
Alt rs111033314(G;G) rs111033314(T;T)
Reference Rs111033314(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.107329648A>G
CLNSRC ClinVar
CLNACC RCV000036424.2,


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