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rs79310911

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs79310911(C;T)
Make rs79310911(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position50943372
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs79310911
ebirs79310911
HLIrs79310911
Exacrs79310911
Varsomers79310911
Maprs79310911
PheGenIrs79310911
hapmaprs79310911
1000 genomesrs79310911
hgdprs79310911
ensemblrs79310911
gopubmedrs79310911
geneviewrs79310911
scholarrs79310911
googlers79310911
pharmgkbrs79310911
gwascentralrs79310911
openSNPrs79310911
23andMers79310911
23andMe allrs79310911
SNP Nexus

SNPshotrs79310911
SNPdbers79310911
MSV3drs79310911
GWAS Ctlgrs79310911
Max Magnitude0
ClinVar
Risk rs79310911(T;T)
Alt rs79310911(T;T)
Reference rs79310911(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.51517508C>T
CLNSRC
CLNACC