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rs397516418

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397516418(G;G)
Make rs397516418(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107694718
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs397516418
dbSNP (classic)rs397516418
ClinGenrs397516418
ebirs397516418
HLIrs397516418
Exacrs397516418
Gnomadrs397516418
Varsomers397516418
LitVarrs397516418
Maprs397516418
PheGenIrs397516418
Biobankrs397516418
1000 genomesrs397516418
hgdprs397516418
ensemblrs397516418
geneviewrs397516418
scholarrs397516418
googlers397516418
pharmgkbrs397516418
gwascentralrs397516418
openSNPrs397516418
23andMers397516418
SNPshotrs397516418
SNPdbers397516418
MSV3drs397516418
GWAS Ctlgrs397516418
Max Magnitude0
ClinVar
Risk rs397516418(G;G)
Alt rs397516418(G;G)
Reference Rs397516418(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.107335163T>G
CLNSRC ClinVar
CLNACC RCV000036442.2, RCV000410548.1,