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rs121908365

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121908365(A;A)
Make rs121908365(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107672230
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs121908365
dbSNP (classic)rs121908365
ClinGenrs121908365
ebirs121908365
HLIrs121908365
Exacrs121908365
Gnomadrs121908365
Varsomers121908365
LitVarrs121908365
Maprs121908365
PheGenIrs121908365
Biobankrs121908365
1000 genomesrs121908365
hgdprs121908365
ensemblrs121908365
geneviewrs121908365
scholarrs121908365
googlers121908365
pharmgkbrs121908365
gwascentralrs121908365
openSNPrs121908365
23andMers121908365
SNPshotrs121908365
SNPdbers121908365
MSV3drs121908365
GWAS Ctlgrs121908365
Max Magnitude0
OMIM605646
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121908365(A;A)
Alt rs121908365(A;A)
Reference Rs121908365(T;T)
Significance Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107312675T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005105.4,