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rs1057516796

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516796(-;-)
Make rs1057516796(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107704363
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs1057516796
dbSNP (classic)rs1057516796
ClinGenrs1057516796
ebirs1057516796
HLIrs1057516796
Exacrs1057516796
Gnomadrs1057516796
Varsomers1057516796
LitVarrs1057516796
Maprs1057516796
PheGenIrs1057516796
Biobankrs1057516796
1000 genomesrs1057516796
hgdprs1057516796
ensemblrs1057516796
geneviewrs1057516796
scholarrs1057516796
googlers1057516796
pharmgkbrs1057516796
gwascentralrs1057516796
openSNPrs1057516796
23andMers1057516796
SNPshotrs1057516796
SNPdbers1057516796
MSV3drs1057516796
GWAS Ctlgrs1057516796
Max Magnitude0
ClinVar
Risk rs1057516796(-;-)
Alt rs1057516796(-;-)
Reference Rs1057516796(T;T)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107344808delT
CLNSRC
CLNACC RCV000409230.1,