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rs779423223

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs779423223(G;T)
Make rs779423223(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position42065891
GeneLOC107985551, NAGA
is asnp
is mentioned by
dbSNPrs779423223
dbSNP (classic)rs779423223
ClinGenrs779423223
ebirs779423223
HLIrs779423223
Exacrs779423223
Gnomadrs779423223
Varsomers779423223
LitVarrs779423223
Maprs779423223
PheGenIrs779423223
Biobankrs779423223
1000 genomesrs779423223
hgdprs779423223
ensemblrs779423223
geneviewrs779423223
scholarrs779423223
googlers779423223
pharmgkbrs779423223
gwascentralrs779423223
openSNPrs779423223
23andMers779423223
SNPshotrs779423223
SNPdbers779423223
MSV3drs779423223
GWAS Ctlgrs779423223
Max Magnitude0
ClinVar
Risk rs779423223(T;T)
Alt rs779423223(T;T)
Reference Rs779423223(G;G)
Significance Probable-Pathogenic
Disease Schindler disease
Variation info
Gene NAGA
CLNDBN Schindler disease, type 1
Reversed 0
HGVS NC_000022.10:g.42461895G>T
CLNSRC
CLNACC RCV000192506.1,