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rs727503430

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727503430(A;A)
Make rs727503430(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position107704386
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs727503430
dbSNP (classic)rs727503430
ClinGenrs727503430
ebirs727503430
HLIrs727503430
Exacrs727503430
Gnomadrs727503430
Varsomers727503430
LitVarrs727503430
Maprs727503430
PheGenIrs727503430
Biobankrs727503430
1000 genomesrs727503430
hgdprs727503430
ensemblrs727503430
geneviewrs727503430
scholarrs727503430
googlers727503430
pharmgkbrs727503430
gwascentralrs727503430
openSNPrs727503430
23andMers727503430
SNPshotrs727503430
SNPdbers727503430
MSV3drs727503430
GWAS Ctlgrs727503430
Max Magnitude0
ClinVar
Risk rs727503430(A;A)
Alt rs727503430(A;A)
Reference Rs727503430(G;G)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided
Variation info
Gene SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome not provided
Reversed 0
HGVS NC_000007.13:g.107344831G>A
CLNSRC
CLNACC RCV000151908.1, RCV000411928.1, RCV000477837.1, RCV000492847.1,