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rs78071087

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs78071087(G;T)
Make rs78071087(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position50929556
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs78071087
dbSNP (classic)rs78071087
ClinGenrs78071087
ebirs78071087
HLIrs78071087
Exacrs78071087
Gnomadrs78071087
Varsomers78071087
LitVarrs78071087
Maprs78071087
PheGenIrs78071087
Biobankrs78071087
1000 genomesrs78071087
hgdprs78071087
ensemblrs78071087
geneviewrs78071087
scholarrs78071087
googlers78071087
pharmgkbrs78071087
gwascentralrs78071087
openSNPrs78071087
23andMers78071087
SNPshotrs78071087
SNPdbers78071087
MSV3drs78071087
GWAS Ctlgrs78071087
Max Magnitude0
ClinVar
Risk rs78071087(T;T)
Alt rs78071087(T;T)
Reference Rs78071087(G;G)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 2
Variation info
Gene RNASEH2B
CLNDBN Aicardi Goutieres syndrome 2
Reversed 0
HGVS NC_000013.10:g.51503692G>T
CLNSRC
CLNACC