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rs111033454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs111033454(A;A)
Make rs111033454(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107683281
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033454
ebirs111033454
HLIrs111033454
Exacrs111033454
Varsomers111033454
Maprs111033454
PheGenIrs111033454
hapmaprs111033454
1000 genomesrs111033454
hgdprs111033454
ensemblrs111033454
gopubmedrs111033454
geneviewrs111033454
scholarrs111033454
googlers111033454
pharmgkbrs111033454
gwascentralrs111033454
openSNPrs111033454
23andMers111033454
23andMe allrs111033454
SNP Nexus

SNPshotrs111033454
SNPdbers111033454
MSV3drs111033454
GWAS Ctlgrs111033454
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs111033454(A;A)
Alt rs111033454(A;A)
Reference rs111033454(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.107323726G>A
CLNSRC ClinVar
CLNACC RCV000036508.3,