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rs111033245

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033245(G;T)
Make rs111033245(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107683355
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033245
ebirs111033245
HLIrs111033245
Exacrs111033245
Varsomers111033245
Maprs111033245
PheGenIrs111033245
hapmaprs111033245
1000 genomesrs111033245
hgdprs111033245
ensemblrs111033245
gopubmedrs111033245
geneviewrs111033245
scholarrs111033245
googlers111033245
pharmgkbrs111033245
gwascentralrs111033245
openSNPrs111033245
23andMers111033245
23andMe allrs111033245
SNP Nexus

SNPshotrs111033245
SNPdbers111033245
MSV3drs111033245
GWAS Ctlgrs111033245
Max Magnitude0
ClinVar
Risk rs111033245(T;T)
Alt rs111033245(T;T)
Reference rs111033245(G;G)
Significance Probable-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.107323800G>T
CLNSRC ClinVar
CLNACC RCV000036512.2,


[PMID 9618166] Two frequent missense mutations in Pendred syndrome.


[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.