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rs111033380

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033380(A;A)
Make rs111033380(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107674337
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033380
ebirs111033380
HLIrs111033380
Exacrs111033380
Varsomers111033380
Maprs111033380
PheGenIrs111033380
hapmaprs111033380
1000 genomesrs111033380
hgdprs111033380
ensemblrs111033380
gopubmedrs111033380
geneviewrs111033380
scholarrs111033380
googlers111033380
pharmgkbrs111033380
gwascentralrs111033380
openSNPrs111033380
23andMers111033380
23andMe allrs111033380
SNP Nexus

SNPshotrs111033380
SNPdbers111033380
MSV3drs111033380
GWAS Ctlgrs111033380
Max Magnitude0
ClinVar
Risk rs111033380(A;A)
Alt rs111033380(A;A)
Reference rs111033380(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.107314782G>A
CLNSRC ClinVar
CLNACC RCV000036500.2,


[PMID 17718863] A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.