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rs121434531

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434531(G;T)
Make rs121434531(T;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position42066730
GeneNAGA
is asnp
is mentioned by
dbSNPrs121434531
ebirs121434531
HLIrs121434531
Exacrs121434531
Varsomers121434531
Maprs121434531
PheGenIrs121434531
hapmaprs121434531
1000 genomesrs121434531
hgdprs121434531
ensemblrs121434531
gopubmedrs121434531
geneviewrs121434531
scholarrs121434531
googlers121434531
pharmgkbrs121434531
gwascentralrs121434531
openSNPrs121434531
23andMers121434531
23andMe allrs121434531
SNP Nexus

SNPshotrs121434531
SNPdbers121434531
MSV3drs121434531
GWAS Ctlgrs121434531
Max Magnitude0
OMIM104170
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434531(T;T)
Alt rs121434531(T;T)
Reference rs121434531(G;G)
Significance Pathogenic
Disease Kanzaki disease
Variation info
Gene NAGA
CLNDBN Kanzaki disease
Reversed 1
HGVS NC_000022.10:g.42462734C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019794.28,