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rs1057516354

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516354(-;-)
Make rs1057516354(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107690212
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs1057516354
dbSNP (old)rs1057516354
ClinGenrs1057516354
ebirs1057516354
HLIrs1057516354
Exacrs1057516354
Gnomadrs1057516354
Varsomers1057516354
Maprs1057516354
PheGenIrs1057516354
Biobankrs1057516354
1000 genomesrs1057516354
hgdprs1057516354
ensemblrs1057516354
gopubmedrs1057516354
geneviewrs1057516354
scholarrs1057516354
googlers1057516354
pharmgkbrs1057516354
gwascentralrs1057516354
openSNPrs1057516354
23andMers1057516354
23andMe allrs1057516354
SNPshotrs1057516354
SNPdbers1057516354
MSV3drs1057516354
GWAS Ctlgrs1057516354
Max Magnitude0
ClinVar
Risk rs1057516354(-;-)
Alt rs1057516354(-;-)
Reference Rs1057516354(A;A)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107330657delA
CLNSRC
CLNACC RCV000410353.1,