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rs1057517042

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057517042(A;A)
Make rs1057517042(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome7
Position107690147
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs1057517042
dbSNP (classic)rs1057517042
ClinGenrs1057517042
ebirs1057517042
HLIrs1057517042
Exacrs1057517042
Gnomadrs1057517042
Varsomers1057517042
LitVarrs1057517042
Maprs1057517042
PheGenIrs1057517042
Biobankrs1057517042
1000 genomesrs1057517042
hgdprs1057517042
ensemblrs1057517042
geneviewrs1057517042
scholarrs1057517042
googlers1057517042
pharmgkbrs1057517042
gwascentralrs1057517042
openSNPrs1057517042
23andMers1057517042
SNPshotrs1057517042
SNPdbers1057517042
MSV3drs1057517042
GWAS Ctlgrs1057517042
Max Magnitude0
ClinVar
Risk rs1057517042(A;A)
Alt rs1057517042(A;A)
Reference Rs1057517042(C;C)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107330592C>A
CLNSRC
CLNACC RCV000409144.1,