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rs79564863

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs79564863(A;A)
Make rs79564863(A;C)
ReferenceGRCh38 38.1/141
Chromosome13
Position50927470
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs79564863
dbSNP (classic)rs79564863
ClinGenrs79564863
ebirs79564863
HLIrs79564863
Exacrs79564863
Gnomadrs79564863
Varsomers79564863
LitVarrs79564863
Maprs79564863
PheGenIrs79564863
Biobankrs79564863
1000 genomesrs79564863
hgdprs79564863
ensemblrs79564863
geneviewrs79564863
scholarrs79564863
googlers79564863
pharmgkbrs79564863
gwascentralrs79564863
openSNPrs79564863
23andMers79564863
SNPshotrs79564863
SNPdbers79564863
MSV3drs79564863
GWAS Ctlgrs79564863
Max Magnitude0
ClinVar
Risk rs79564863(A;A)
Alt rs79564863(A;A)
Reference Rs79564863(C;C)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 2
Variation info
Gene RNASEH2B
CLNDBN Aicardi Goutieres syndrome 2
Reversed 0
HGVS NC_000013.10:g.51501606C>A
CLNSRC
CLNACC