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rs786205483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs786205483(A;G)
Make rs786205483(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position50934919
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs786205483
ClinGenrs786205483
ebirs786205483
HLIrs786205483
Exacrs786205483
Varsomers786205483
Maprs786205483
PheGenIrs786205483
hapmaprs786205483
1000 genomesrs786205483
hgdprs786205483
ensemblrs786205483
gopubmedrs786205483
geneviewrs786205483
scholarrs786205483
googlers786205483
pharmgkbrs786205483
gwascentralrs786205483
openSNPrs786205483
23andMers786205483
23andMe allrs786205483
SNP Nexus

SNPshotrs786205483
SNPdbers786205483
MSV3drs786205483
GWAS Ctlgrs786205483
Max Magnitude0
ClinVar
Risk rs786205483(G;G)
Alt rs786205483(G;G)
Reference Rs786205483(A;A)
Significance Pathogenic
Disease not provided Aicardi Goutieres syndrome 2
Variation info
Gene RNASEH2B
CLNDBN not provided Aicardi Goutieres syndrome 2
Reversed 0
HGVS NC_000013.10:g.51509055A>G
CLNSRC
CLNACC RCV000171218.1, RCV000492016.1,