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rs121434530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434530(C;T)
Make rs121434530(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position42061040
GeneNAGA
is asnp
is mentioned by
dbSNPrs121434530
ebirs121434530
HLIrs121434530
Exacrs121434530
Varsomers121434530
Maprs121434530
PheGenIrs121434530
hapmaprs121434530
1000 genomesrs121434530
hgdprs121434530
ensemblrs121434530
gopubmedrs121434530
geneviewrs121434530
scholarrs121434530
googlers121434530
pharmgkbrs121434530
gwascentralrs121434530
openSNPrs121434530
23andMers121434530
23andMe allrs121434530
SNP Nexus

SNPshotrs121434530
SNPdbers121434530
MSV3drs121434530
GWAS Ctlgrs121434530
Max Magnitude0
OMIM104170
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434530(T;T)
Alt rs121434530(T;T)
Reference rs121434530(C;C)
Significance Pathogenic
Disease Kanzaki disease
Variation info
Gene NAGA
CLNDBN Kanzaki disease
Reversed 1
HGVS NC_000022.10:g.42457044G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019793.27,