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rs121908364

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908364(C;T)
Make rs121908364(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107689166
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs121908364
dbSNP (classic)rs121908364
ClinGenrs121908364
ebirs121908364
HLIrs121908364
Exacrs121908364
Gnomadrs121908364
Varsomers121908364
LitVarrs121908364
Maprs121908364
PheGenIrs121908364
Biobankrs121908364
1000 genomesrs121908364
hgdprs121908364
ensemblrs121908364
geneviewrs121908364
scholarrs121908364
googlers121908364
pharmgkbrs121908364
gwascentralrs121908364
openSNPrs121908364
23andMers121908364
SNPshotrs121908364
SNPdbers121908364
MSV3drs121908364
GWAS Ctlgrs121908364
Max Magnitude0
OMIM605646
Desc
Variant0014
Relatedalso
ClinVar
Risk rs121908364(T;T)
Alt rs121908364(T;T)
Reference Rs121908364(C;C)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome
Variation info
Gene SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome
Reversed 0
HGVS NC_000007.13:g.107329611C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005092.3,