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rs397516414

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516414(A;A)
Make rs397516414(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107690178
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs397516414
dbSNP (classic)rs397516414
ClinGenrs397516414
ebirs397516414
HLIrs397516414
Exacrs397516414
Gnomadrs397516414
Varsomers397516414
LitVarrs397516414
Maprs397516414
PheGenIrs397516414
Biobankrs397516414
1000 genomesrs397516414
hgdprs397516414
ensemblrs397516414
geneviewrs397516414
scholarrs397516414
googlers397516414
pharmgkbrs397516414
gwascentralrs397516414
openSNPrs397516414
23andMers397516414
SNPshotrs397516414
SNPdbers397516414
MSV3drs397516414
GWAS Ctlgrs397516414
Max Magnitude0
ClinVar
Risk rs397516414(A;A)
Alt rs397516414(A;A)
Reference Rs397516414(G;G)
Significance Probable-Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome SLC26A4-Related Disorders
Variation info
Gene SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome SLC26A4-Related Disorders
Reversed 0
HGVS NC_000007.13:g.107330623G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000036427.2, RCV000259862.1,