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rs397516430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516430(A;A)
Make rs397516430(A;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position107661709
GeneSLC26A4, SLC26A4-AS1
is asnp
is mentioned by
dbSNPrs397516430
ebirs397516430
HLIrs397516430
Exacrs397516430
Varsomers397516430
Maprs397516430
PheGenIrs397516430
hapmaprs397516430
1000 genomesrs397516430
hgdprs397516430
ensemblrs397516430
gopubmedrs397516430
geneviewrs397516430
scholarrs397516430
googlers397516430
pharmgkbrs397516430
gwascentralrs397516430
openSNPrs397516430
23andMers397516430
23andMe allrs397516430
SNP Nexus

SNPshotrs397516430
SNPdbers397516430
MSV3drs397516430
GWAS Ctlgrs397516430
Max Magnitude0
ClinVar
Risk rs397516430(A;A)
Alt rs397516430(A;A)
Reference rs397516430(C;C)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome
Variation info
Gene SLC26A4-AS1 SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107302154C>A
CLNSRC ClinVar
CLNACC RCV000036502.2, RCV000169606.1,