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rs483353048

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs483353048(A;C)
Make rs483353048(C;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position107675112
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs483353048
ebirs483353048
HLIrs483353048
Exacrs483353048
Varsomers483353048
Maprs483353048
PheGenIrs483353048
hapmaprs483353048
1000 genomesrs483353048
hgdprs483353048
ensemblrs483353048
gopubmedrs483353048
geneviewrs483353048
scholarrs483353048
googlers483353048
pharmgkbrs483353048
gwascentralrs483353048
openSNPrs483353048
23andMers483353048
23andMe allrs483353048
SNP Nexus

SNPshotrs483353048
SNPdbers483353048
MSV3drs483353048
GWAS Ctlgrs483353048
Max Magnitude0
ClinVar
Risk rs483353048(C,T;C,T)
Alt rs483353048(C,T;C,T)
Reference rs483353048(A;A)
Significance Probable-Pathogenic
Disease Enlarged vestibular aqueduct syndrome
Variation info
Gene SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome
Reversed 0
HGVS NC_000007.13:g.107315557A>C
CLNSRC ClinVar
CLNACC RCV000119812.1,