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rs77391331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs77391331(C;C)
Make rs77391331(C;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position50948025
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs77391331
dbSNP (classic)rs77391331
ClinGenrs77391331
ebirs77391331
HLIrs77391331
Exacrs77391331
Gnomadrs77391331
Varsomers77391331
LitVarrs77391331
Maprs77391331
PheGenIrs77391331
Biobankrs77391331
1000 genomesrs77391331
hgdprs77391331
ensemblrs77391331
geneviewrs77391331
scholarrs77391331
googlers77391331
pharmgkbrs77391331
gwascentralrs77391331
openSNPrs77391331
23andMers77391331
SNPshotrs77391331
SNPdbers77391331
MSV3drs77391331
GWAS Ctlgrs77391331
Max Magnitude0
ClinVar
Risk rs77391331(C;C)
Alt rs77391331(C;C)
Reference Rs77391331(T;T)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 2
Variation info
Gene RNASEH2B
CLNDBN Aicardi Goutieres syndrome 2
Reversed 0
HGVS NC_000013.10:g.51522161T>C
CLNSRC
CLNACC