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rs121908366

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908366(A;A)
Make rs121908366(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position107696035
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs121908366
dbSNP (classic)rs121908366
ClinGenrs121908366
ebirs121908366
HLIrs121908366
Exacrs121908366
Gnomadrs121908366
Varsomers121908366
LitVarrs121908366
Maprs121908366
PheGenIrs121908366
Biobankrs121908366
1000 genomesrs121908366
hgdprs121908366
ensemblrs121908366
geneviewrs121908366
scholarrs121908366
googlers121908366
pharmgkbrs121908366
gwascentralrs121908366
openSNPrs121908366
23andMers121908366
SNPshotrs121908366
SNPdbers121908366
MSV3drs121908366
GWAS Ctlgrs121908366
Max Magnitude0
OMIM605646
Desc
Variant0030
Relatedalso
ClinVar
Risk rs121908366(A;A)
Alt rs121908366(A;A)
Reference Rs121908366(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.107336480C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005113.6,