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rs121918380

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918380(C;T)
Make rs121918380(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position110263964
GeneRDX
is asnp
is mentioned by
dbSNPrs121918380
dbSNP (classic)rs121918380
ClinGenrs121918380
ebirs121918380
HLIrs121918380
Exacrs121918380
Gnomadrs121918380
Varsomers121918380
LitVarrs121918380
Maprs121918380
PheGenIrs121918380
Biobankrs121918380
1000 genomesrs121918380
hgdprs121918380
ensemblrs121918380
geneviewrs121918380
scholarrs121918380
googlers121918380
pharmgkbrs121918380
gwascentralrs121918380
openSNPrs121918380
23andMers121918380
SNPshotrs121918380
SNPdbers121918380
MSV3drs121918380
GWAS Ctlgrs121918380
Max Magnitude0
OMIM179410
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918380(T;T)
Alt rs121918380(T;T)
Reference Rs121918380(C;C)
Significance Pathogenic
Disease Deafness
Variation info
Gene RDX
CLNDBN Deafness, autosomal recessive 24
Reversed 1
HGVS NC_000011.9:g.110134689G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014074.24,