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rs79318303

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CCACTGGGTCTGCTGGCC;CCACTGGGTCTGCTGGCC) 0 common in clinvar
(CTGCTGGCCCCACTGGGT;CTGCTGGCCCCACTGGGT) 0 common in clinvar
Make rs79318303(-;-)
Make rs79318303(-;CCACTGGGTCTGCTGGCC)
ReferenceGRCh38 38.1/141
Chromosome3
Position48467523
GeneTREX1
is asnp
is mentioned by
dbSNPrs79318303
ebirs79318303
HLIrs79318303
Exacrs79318303
Varsomers79318303
Maprs79318303
PheGenIrs79318303
hapmaprs79318303
1000 genomesrs79318303
hgdprs79318303
ensemblrs79318303
gopubmedrs79318303
geneviewrs79318303
scholarrs79318303
googlers79318303
pharmgkbrs79318303
gwascentralrs79318303
openSNPrs79318303
23andMers79318303
23andMe allrs79318303
SNP Nexus

SNPshotrs79318303
SNPdbers79318303
MSV3drs79318303
GWAS Ctlgrs79318303
Max Magnitude0
ClinVar
Risk rs79318303(;)
Alt rs79318303(;)
Reference rs79318303(CTGCTGGCCCCACTGGGT;CTGCTGGCCCCACTGGGT)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1 SHISA5
CLNDBN Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508922_48508939del18
CLNSRC ClinVar
CLNACC RCV000114334.2,