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rs111033242

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs111033242(C;G)
Make rs111033242(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position107675050
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033242
dbSNP (classic)rs111033242
ClinGenrs111033242
ebirs111033242
HLIrs111033242
Exacrs111033242
Gnomadrs111033242
Varsomers111033242
LitVarrs111033242
Maprs111033242
PheGenIrs111033242
Biobankrs111033242
1000 genomesrs111033242
hgdprs111033242
ensemblrs111033242
geneviewrs111033242
scholarrs111033242
googlers111033242
pharmgkbrs111033242
gwascentralrs111033242
openSNPrs111033242
23andMers111033242
SNPshotrs111033242
SNPdbers111033242
MSV3drs111033242
GWAS Ctlgrs111033242
Max Magnitude0
ClinVar
Risk rs111033242(G;G)
Alt rs111033242(G;G)
Reference Rs111033242(C;C)
Significance Probable-Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome
Variation info
Gene SLC26A4
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome
Reversed 0
HGVS NC_000007.13:g.107315495C>G
CLNSRC
CLNACC RCV000036504.3, RCV000411990.1,