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rs121434529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434529(A;A)
Make rs121434529(A;G)
ReferenceGRCh38 38.1/142
Chromosome22
Position42061052
GeneNAGA
is asnp
is mentioned by
dbSNPrs121434529
ebirs121434529
HLIrs121434529
Exacrs121434529
Varsomers121434529
Maprs121434529
PheGenIrs121434529
hapmaprs121434529
1000 genomesrs121434529
hgdprs121434529
ensemblrs121434529
gopubmedrs121434529
geneviewrs121434529
scholarrs121434529
googlers121434529
pharmgkbrs121434529
gwascentralrs121434529
openSNPrs121434529
23andMers121434529
23andMe allrs121434529
SNP Nexus

SNPshotrs121434529
SNPdbers121434529
MSV3drs121434529
GWAS Ctlgrs121434529
Max Magnitude0
OMIM104170
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434529(A;A)
Alt rs121434529(A;A)
Reference rs121434529(G;G)
Significance Pathogenic
Disease Schindler disease
Variation info
Gene NAGA
CLNDBN Schindler disease, type 1
Reversed 1
HGVS NC_000022.10:g.42457056C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019792.26,