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rs727503431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs727503431(C;T)
Make rs727503431(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position107710179
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs727503431
dbSNP (classic)rs727503431
ClinGenrs727503431
ebirs727503431
HLIrs727503431
Exacrs727503431
Gnomadrs727503431
Varsomers727503431
LitVarrs727503431
Maprs727503431
PheGenIrs727503431
Biobankrs727503431
1000 genomesrs727503431
hgdprs727503431
ensemblrs727503431
geneviewrs727503431
scholarrs727503431
googlers727503431
pharmgkbrs727503431
gwascentralrs727503431
openSNPrs727503431
23andMers727503431
SNPshotrs727503431
SNPdbers727503431
MSV3drs727503431
GWAS Ctlgrs727503431
Max Magnitude0
ClinVar
Risk rs727503431(T;T)
Alt rs727503431(T;T)
Reference Rs727503431(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.107350624C>T
CLNSRC
CLNACC RCV000151910.1, RCV000409741.1,