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rs121434532

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434532(C;G)
Make rs121434532(G;G)
ReferenceGRCh38 38.1/142
Chromosome22
Position42067136
GeneNAGA
is asnp
is mentioned by
dbSNPrs121434532
ebirs121434532
HLIrs121434532
Exacrs121434532
Varsomers121434532
Maprs121434532
PheGenIrs121434532
hapmaprs121434532
1000 genomesrs121434532
hgdprs121434532
ensemblrs121434532
gopubmedrs121434532
geneviewrs121434532
scholarrs121434532
googlers121434532
pharmgkbrs121434532
gwascentralrs121434532
openSNPrs121434532
23andMers121434532
23andMe allrs121434532
SNP Nexus

SNPshotrs121434532
SNPdbers121434532
MSV3drs121434532
GWAS Ctlgrs121434532
GMAF0.0009183
Max Magnitude0
OMIM104170
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434532(G;G)
Alt rs121434532(G;G)
Reference rs121434532(C;C)
Significance Pathogenic
Disease Schindler disease Schindler disease
Variation info
Gene NAGA
CLNDBN Schindler disease, type 3 Schindler disease, type 1
Reversed 1
HGVS NC_000022.10:g.42463140G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019795.26, RCV000169668.1,