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rs397516420

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516420(C;C)
Make rs397516420(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107661807
GeneSLC26A4, SLC26A4-AS1
is asnp
is mentioned by
dbSNPrs397516420
dbSNP (classic)rs397516420
ClinGenrs397516420
ebirs397516420
HLIrs397516420
Exacrs397516420
Gnomadrs397516420
Varsomers397516420
LitVarrs397516420
Maprs397516420
PheGenIrs397516420
Biobankrs397516420
1000 genomesrs397516420
hgdprs397516420
ensemblrs397516420
geneviewrs397516420
scholarrs397516420
googlers397516420
pharmgkbrs397516420
gwascentralrs397516420
openSNPrs397516420
23andMers397516420
SNPshotrs397516420
SNPdbers397516420
MSV3drs397516420
GWAS Ctlgrs397516420
Max Magnitude0
ClinVar
Risk rs397516420(C;C)
Alt rs397516420(C;C)
Reference Rs397516420(T;T)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided
Variation info
Gene SLC26A4-AS1 SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided
Reversed 0
HGVS NC_000007.13:g.107302252T>C
CLNSRC ClinVar
CLNACC RCV000036453.2, RCV000328168.1,