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rs121434533

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434533(A;A)
Make rs121434533(A;G)
ReferenceGRCh38 38.1/142
Chromosome22
Position42061039
GeneNAGA
is asnp
is mentioned by
dbSNPrs121434533
ebirs121434533
HLIrs121434533
Exacrs121434533
Varsomers121434533
Maprs121434533
PheGenIrs121434533
hapmaprs121434533
1000 genomesrs121434533
hgdprs121434533
ensemblrs121434533
gopubmedrs121434533
geneviewrs121434533
scholarrs121434533
googlers121434533
pharmgkbrs121434533
gwascentralrs121434533
openSNPrs121434533
23andMers121434533
23andMe allrs121434533
SNP Nexus

SNPshotrs121434533
SNPdbers121434533
MSV3drs121434533
GWAS Ctlgrs121434533
GMAF0.0004591
Max Magnitude0
OMIM104170
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434533(A;A)
Alt rs121434533(A;A)
Reference rs121434533(G;G)
Significance Pathogenic
Disease Kanzaki disease
Variation info
Gene NAGA
CLNDBN Kanzaki disease
Reversed 1
HGVS NC_000022.10:g.42457043C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019796.27,