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rs786204600

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204600(-;-)
Make rs786204600(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position107683326
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs786204600
dbSNP (classic)rs786204600
ClinGenrs786204600
ebirs786204600
HLIrs786204600
Exacrs786204600
Gnomadrs786204600
Varsomers786204600
LitVarrs786204600
Maprs786204600
PheGenIrs786204600
Biobankrs786204600
1000 genomesrs786204600
hgdprs786204600
ensemblrs786204600
geneviewrs786204600
scholarrs786204600
googlers786204600
pharmgkbrs786204600
gwascentralrs786204600
openSNPrs786204600
23andMers786204600
SNPshotrs786204600
SNPdbers786204600
MSV3drs786204600
GWAS Ctlgrs786204600
Max Magnitude0
ClinVar
Risk rs786204600(-;-)
Alt rs786204600(-;-)
Reference Rs786204600(C;C)
Significance Probable-Pathogenic
Disease Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107323771delC
CLNSRC
CLNACC RCV000169356.1,