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rs80087649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80087649(G;T)
Make rs80087649(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position50935000
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs80087649
dbSNP (classic)rs80087649
ClinGenrs80087649
ebirs80087649
HLIrs80087649
Exacrs80087649
Gnomadrs80087649
Varsomers80087649
LitVarrs80087649
Maprs80087649
PheGenIrs80087649
Biobankrs80087649
1000 genomesrs80087649
hgdprs80087649
ensemblrs80087649
geneviewrs80087649
scholarrs80087649
googlers80087649
pharmgkbrs80087649
gwascentralrs80087649
openSNPrs80087649
23andMers80087649
SNPshotrs80087649
SNPdbers80087649
MSV3drs80087649
GWAS Ctlgrs80087649
Max Magnitude0
ClinVar
Risk rs80087649(T;T)
Alt rs80087649(T;T)
Reference Rs80087649(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.51509136G>T
CLNSRC
CLNACC