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rs76219783

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs76219783(G;T)
Make rs76219783(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position50943360
GeneRNASEH2B
is asnp
is mentioned by
dbSNPrs76219783
ebirs76219783
HLIrs76219783
Exacrs76219783
Varsomers76219783
Maprs76219783
PheGenIrs76219783
hapmaprs76219783
1000 genomesrs76219783
hgdprs76219783
ensemblrs76219783
gopubmedrs76219783
geneviewrs76219783
scholarrs76219783
googlers76219783
pharmgkbrs76219783
gwascentralrs76219783
openSNPrs76219783
23andMers76219783
23andMe allrs76219783
SNP Nexus

SNPshotrs76219783
SNPdbers76219783
MSV3drs76219783
GWAS Ctlgrs76219783
Max Magnitude0
ClinVar
Risk rs76219783(T;T)
Alt rs76219783(T;T)
Reference rs76219783(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.51517496G>T
CLNSRC
CLNACC