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rs1057516508

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs1057516508(-;-)
Make rs1057516508(-;TCT)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107690155
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs1057516508
dbSNP (classic)rs1057516508
ClinGenrs1057516508
ebirs1057516508
HLIrs1057516508
Exacrs1057516508
Gnomadrs1057516508
Varsomers1057516508
LitVarrs1057516508
Maprs1057516508
PheGenIrs1057516508
Biobankrs1057516508
1000 genomesrs1057516508
hgdprs1057516508
ensemblrs1057516508
geneviewrs1057516508
scholarrs1057516508
googlers1057516508
pharmgkbrs1057516508
gwascentralrs1057516508
openSNPrs1057516508
23andMers1057516508
SNPshotrs1057516508
SNPdbers1057516508
MSV3drs1057516508
GWAS Ctlgrs1057516508
Max Magnitude0
ClinVar
Risk rs1057516508(-;-)
Alt rs1057516508(-;-)
Reference Rs1057516508(TCT;TCT)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107330600_107330602delTCT
CLNSRC
CLNACC RCV000410744.1,