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rs111033400

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs111033400(-;-)
Make rs111033400(-;TC)
ReferenceGRCh38 38.1/141
Chromosome7
Position107672230
GeneSLC26A4
is asnp
is mentioned by
dbSNPrs111033400
dbSNP (classic)rs111033400
ClinGenrs111033400
ebirs111033400
HLIrs111033400
Exacrs111033400
Gnomadrs111033400
Varsomers111033400
LitVarrs111033400
Maprs111033400
PheGenIrs111033400
Biobankrs111033400
1000 genomesrs111033400
hgdprs111033400
ensemblrs111033400
geneviewrs111033400
scholarrs111033400
googlers111033400
pharmgkbrs111033400
gwascentralrs111033400
openSNPrs111033400
23andMers111033400
SNPshotrs111033400
SNPdbers111033400
MSV3drs111033400
GWAS Ctlgrs111033400
Max Magnitude0
ClinVar
Risk Rs111033400(A;A)
Alt Rs111033400(A;A)
Reference Rs111033400(TC;TC)
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.107312675_107312676delTCinsA
CLNSRC ClinVar
CLNACC RCV000036492.2,