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rs121908363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908363(C;T)
Make rs121908363(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107710126
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs121908363
dbSNP (classic)rs121908363
ClinGenrs121908363
ebirs121908363
HLIrs121908363
Exacrs121908363
Gnomadrs121908363
Varsomers121908363
LitVarrs121908363
Maprs121908363
PheGenIrs121908363
Biobankrs121908363
1000 genomesrs121908363
hgdprs121908363
ensemblrs121908363
geneviewrs121908363
scholarrs121908363
googlers121908363
pharmgkbrs121908363
gwascentralrs121908363
openSNPrs121908363
23andMers121908363
SNPshotrs121908363
SNPdbers121908363
MSV3drs121908363
GWAS Ctlgrs121908363
Max Magnitude0
OMIM605646
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908363(T;T)
Alt rs121908363(T;T)
Reference Rs121908363(C;C)
Significance Other
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.107350571C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005096.3, RCV000005097.5, RCV000154350.2,