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rs111033312

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033312(A;A)
Make rs111033312(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107698112
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033312
ebirs111033312
HLIrs111033312
Exacrs111033312
Varsomers111033312
Maprs111033312
PheGenIrs111033312
hapmaprs111033312
1000 genomesrs111033312
hgdprs111033312
ensemblrs111033312
gopubmedrs111033312
geneviewrs111033312
scholarrs111033312
googlers111033312
pharmgkbrs111033312
gwascentralrs111033312
openSNPrs111033312
23andMers111033312
23andMe allrs111033312
SNP Nexus

SNPshotrs111033312
SNPdbers111033312
MSV3drs111033312
GWAS Ctlgrs111033312
Max Magnitude0
ClinVar
Risk rs111033312(A,C;A,C)
Alt rs111033312(A,C;A,C)
Reference rs111033312(G;G)
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.107338557G>A; NC_000007.13:g.107338557G>C
CLNSRC ClinVar
CLNACC RCV000036451.3, RCV000155956.2,


[PMID 11919333] Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.