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rs1057516239

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057516239(C;C)
Make rs1057516239(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107683356
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs1057516239
dbSNP (old)rs1057516239
ClinGenrs1057516239
ebirs1057516239
HLIrs1057516239
Exacrs1057516239
Gnomadrs1057516239
Varsomers1057516239
LitVarrs1057516239
Maprs1057516239
PheGenIrs1057516239
Biobankrs1057516239
1000 genomesrs1057516239
hgdprs1057516239
ensemblrs1057516239
gopubmedrs1057516239
geneviewrs1057516239
scholarrs1057516239
googlers1057516239
pharmgkbrs1057516239
gwascentralrs1057516239
openSNPrs1057516239
23andMers1057516239
23andMe allrs1057516239
SNPshotrs1057516239
SNPdbers1057516239
MSV3drs1057516239
GWAS Ctlgrs1057516239
Max Magnitude0
ClinVar
Risk rs1057516239(C;C)
Alt rs1057516239(C;C)
Reference Rs1057516239(T;T)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107323801T>C
CLNSRC
CLNACC RCV000409090.1,