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rs121918379

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918379(A;A)
Make rs121918379(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position110231889
GeneRDX
is asnp
is mentioned by
dbSNPrs121918379
dbSNP (classic)rs121918379
ClinGenrs121918379
ebirs121918379
HLIrs121918379
Exacrs121918379
Gnomadrs121918379
Varsomers121918379
LitVarrs121918379
Maprs121918379
PheGenIrs121918379
Biobankrs121918379
1000 genomesrs121918379
hgdprs121918379
ensemblrs121918379
geneviewrs121918379
scholarrs121918379
googlers121918379
pharmgkbrs121918379
gwascentralrs121918379
openSNPrs121918379
23andMers121918379
SNPshotrs121918379
SNPdbers121918379
MSV3drs121918379
GWAS Ctlgrs121918379
Max Magnitude0
OMIM179410
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918379(A;A)
Alt rs121918379(A;A)
Reference Rs121918379(G;G)
Significance Pathogenic
Disease Deafness
Variation info
Gene RDX
CLNDBN Deafness, autosomal recessive 24
Reversed 1
HGVS NC_000011.9:g.110102614C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014072.17,