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rs397516416

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516416(C;T)
Make rs397516416(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107694475
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs397516416
ClinGenrs397516416
ebirs397516416
HLIrs397516416
Exacrs397516416
Varsomers397516416
Maprs397516416
PheGenIrs397516416
hapmaprs397516416
1000 genomesrs397516416
hgdprs397516416
ensemblrs397516416
gopubmedrs397516416
geneviewrs397516416
scholarrs397516416
googlers397516416
pharmgkbrs397516416
gwascentralrs397516416
openSNPrs397516416
23andMers397516416
23andMe allrs397516416
SNP Nexus

SNPshotrs397516416
SNPdbers397516416
MSV3drs397516416
GWAS Ctlgrs397516416
Max Magnitude0
ClinVar
Risk rs397516416(T;T)
Alt rs397516416(T;T)
Reference Rs397516416(C;C)
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.107334920C>T
CLNSRC ClinVar
CLNACC RCV000036438.2, RCV000169037.1,