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rs368119540

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs368119540(C;C)
Make rs368119540(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position107701943
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs368119540
dbSNP (classic)rs368119540
ClinGenrs368119540
ebirs368119540
HLIrs368119540
Exacrs368119540
Gnomadrs368119540
Varsomers368119540
LitVarrs368119540
Maprs368119540
PheGenIrs368119540
Biobankrs368119540
1000 genomesrs368119540
hgdprs368119540
ensemblrs368119540
geneviewrs368119540
scholarrs368119540
googlers368119540
pharmgkbrs368119540
gwascentralrs368119540
openSNPrs368119540
23andMers368119540
SNPshotrs368119540
SNPdbers368119540
MSV3drs368119540
GWAS Ctlgrs368119540
Max Magnitude0
ClinVar
Risk rs368119540(A;A) rs368119540(C;C)
Alt rs368119540(A;A) rs368119540(C;C)
Reference Rs368119540(G;G)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107342388G>A
CLNSRC
CLNACC RCV000169404.1,