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rs121909340

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909340(A;A)
Make rs121909340(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position170108247
GeneFOXI1
is asnp
is mentioned by
dbSNPrs121909340
dbSNP (classic)rs121909340
ClinGenrs121909340
ebirs121909340
HLIrs121909340
Exacrs121909340
Gnomadrs121909340
Varsomers121909340
LitVarrs121909340
Maprs121909340
PheGenIrs121909340
Biobankrs121909340
1000 genomesrs121909340
hgdprs121909340
ensemblrs121909340
geneviewrs121909340
scholarrs121909340
googlers121909340
pharmgkbrs121909340
gwascentralrs121909340
openSNPrs121909340
23andMers121909340
SNPshotrs121909340
SNPdbers121909340
MSV3drs121909340
GWAS Ctlgrs121909340
Max Magnitude0
OMIM601093
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909340(A;A)
Alt rs121909340(A;A)
Reference Rs121909340(G;G)
Significance Pathogenic
Disease Enlarged vestibular aqueduct syndrome Pendred's syndrome Nonsyndromic Hearing Loss
Variation info
Gene FOXI1
CLNDBN Enlarged vestibular aqueduct syndrome Pendred's syndrome Nonsyndromic Hearing Loss, Mixed
Reversed 0
HGVS NC_000005.9:g.169535251G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008964.2, RCV000272563.1, RCV000320587.1,