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rs111033241

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CACGC;CACGC) 0 common in clinvar
(GCCAC;GCCAC) 0 common in clinvar
(I;I) 0 common genotype
Make rs111033241(-;-)
Make rs111033241(-;CACGC)
ReferenceGRCh38 38.1/141
Chromosome7
Position107663425
GeneSLC26A4, SLC26A4-AS1
is asnp
is mentioned by
dbSNPrs111033241
dbSNP (classic)rs111033241
ClinGenrs111033241
ebirs111033241
HLIrs111033241
Exacrs111033241
Gnomadrs111033241
Varsomers111033241
LitVarrs111033241
Maprs111033241
PheGenIrs111033241
Biobankrs111033241
1000 genomesrs111033241
hgdprs111033241
ensemblrs111033241
geneviewrs111033241
scholarrs111033241
googlers111033241
pharmgkbrs111033241
gwascentralrs111033241
openSNPrs111033241
23andMers111033241
SNPshotrs111033241
SNPdbers111033241
MSV3drs111033241
GWAS Ctlgrs111033241
Max Magnitude0
ClinVar
Risk rs111033241(-;-)
Alt rs111033241(-;-)
Reference Rs111033241(GCCAC;GCCAC)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome
Variation info
Gene SLC26A4-AS1 SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107303870_107303874delCACGC
CLNSRC ClinVar
CLNACC RCV000036487.3, RCV000412115.1,