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rs78705382

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs78705382(C;T)
Make rs78705382(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position50934975
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs78705382
ebirs78705382
HLIrs78705382
Exacrs78705382
Varsomers78705382
Maprs78705382
PheGenIrs78705382
hapmaprs78705382
1000 genomesrs78705382
hgdprs78705382
ensemblrs78705382
gopubmedrs78705382
geneviewrs78705382
scholarrs78705382
googlers78705382
pharmgkbrs78705382
gwascentralrs78705382
openSNPrs78705382
23andMers78705382
23andMe allrs78705382
SNP Nexus

SNPshotrs78705382
SNPdbers78705382
MSV3drs78705382
GWAS Ctlgrs78705382
Max Magnitude0
ClinVar
Risk rs78705382(T;T)
Alt rs78705382(T;T)
Reference rs78705382(C;C)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 2
Variation info
Gene RNASEH2B
CLNDBN Aicardi Goutieres syndrome 2
Reversed 0
HGVS NC_000013.10:g.51509111C>T
CLNSRC
CLNACC