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rs78847362

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs78847362(G;T)
Make rs78847362(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position50929583
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs78847362
ebirs78847362
HLIrs78847362
Exacrs78847362
Varsomers78847362
Maprs78847362
PheGenIrs78847362
hapmaprs78847362
1000 genomesrs78847362
hgdprs78847362
ensemblrs78847362
gopubmedrs78847362
geneviewrs78847362
scholarrs78847362
googlers78847362
pharmgkbrs78847362
gwascentralrs78847362
openSNPrs78847362
23andMers78847362
23andMe allrs78847362
SNP Nexus

SNPshotrs78847362
SNPdbers78847362
MSV3drs78847362
GWAS Ctlgrs78847362
Max Magnitude0
ClinVar
Risk rs78847362(A,T;A,T)
Alt rs78847362(A,T;A,T)
Reference rs78847362(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.51503719G>T
CLNSRC
CLNACC