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rs727503428

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503428(A;A)
Make rs727503428(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position107698051
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs727503428
dbSNP (classic)rs727503428
ClinGenrs727503428
ebirs727503428
HLIrs727503428
Exacrs727503428
Gnomadrs727503428
Varsomers727503428
LitVarrs727503428
Maprs727503428
PheGenIrs727503428
Biobankrs727503428
1000 genomesrs727503428
hgdprs727503428
ensemblrs727503428
geneviewrs727503428
scholarrs727503428
googlers727503428
pharmgkbrs727503428
gwascentralrs727503428
openSNPrs727503428
23andMers727503428
SNPshotrs727503428
SNPdbers727503428
MSV3drs727503428
GWAS Ctlgrs727503428
Max Magnitude0
ClinVar
Risk rs727503428(A;A)
Alt rs727503428(A;A)
Reference Rs727503428(G;G)
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.107338496G>A
CLNSRC
CLNACC RCV000151902.2,