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rs76158094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs76158094(A;A)
Make rs76158094(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position50930685
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs76158094
dbSNP (classic)rs76158094
ClinGenrs76158094
ebirs76158094
HLIrs76158094
Exacrs76158094
Gnomadrs76158094
Varsomers76158094
LitVarrs76158094
Maprs76158094
PheGenIrs76158094
Biobankrs76158094
1000 genomesrs76158094
hgdprs76158094
ensemblrs76158094
geneviewrs76158094
scholarrs76158094
googlers76158094
pharmgkbrs76158094
gwascentralrs76158094
openSNPrs76158094
23andMers76158094
SNPshotrs76158094
SNPdbers76158094
MSV3drs76158094
GWAS Ctlgrs76158094
Max Magnitude0
ClinVar
Risk rs76158094(A;A)
Alt rs76158094(A;A)
Reference Rs76158094(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.51504821G>A
CLNSRC
CLNACC