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rs1057516243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516243(G;T)
Make rs1057516243(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107698092
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs1057516243
dbSNP (old)rs1057516243
ClinGenrs1057516243
ebirs1057516243
HLIrs1057516243
Exacrs1057516243
Gnomadrs1057516243
Varsomers1057516243
Maprs1057516243
PheGenIrs1057516243
Biobankrs1057516243
1000 genomesrs1057516243
hgdprs1057516243
ensemblrs1057516243
gopubmedrs1057516243
geneviewrs1057516243
scholarrs1057516243
googlers1057516243
pharmgkbrs1057516243
gwascentralrs1057516243
openSNPrs1057516243
23andMers1057516243
23andMe allrs1057516243
SNPshotrs1057516243
SNPdbers1057516243
MSV3drs1057516243
GWAS Ctlgrs1057516243
Max Magnitude0
ClinVar
Risk rs1057516243(T;T)
Alt rs1057516243(T;T)
Reference Rs1057516243(G;G)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107338537G>T
CLNSRC
CLNACC RCV000410361.1,