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rs397516432

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516432(C;C)
Make rs397516432(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107675111
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs397516432
dbSNP (classic)rs397516432
ClinGenrs397516432
ebirs397516432
HLIrs397516432
Exacrs397516432
Gnomadrs397516432
Varsomers397516432
LitVarrs397516432
Maprs397516432
PheGenIrs397516432
Biobankrs397516432
1000 genomesrs397516432
hgdprs397516432
ensemblrs397516432
geneviewrs397516432
scholarrs397516432
googlers397516432
pharmgkbrs397516432
gwascentralrs397516432
openSNPrs397516432
23andMers397516432
SNPshotrs397516432
SNPdbers397516432
MSV3drs397516432
GWAS Ctlgrs397516432
Max Magnitude0
ClinVar
Risk rs397516432(C;C)
Alt rs397516432(C;C)
Reference Rs397516432(T;T)
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.107315556T>C
CLNSRC ClinVar
CLNACC RCV000036507.2,