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rs797045073

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs797045073(-;-)
Make rs797045073(-;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position48466867
GeneTREX1
is asnp
is mentioned by
dbSNPrs797045073
dbSNP (classic)rs797045073
ClinGenrs797045073
ebirs797045073
HLIrs797045073
Exacrs797045073
Gnomadrs797045073
Varsomers797045073
LitVarrs797045073
Maprs797045073
PheGenIrs797045073
Biobankrs797045073
1000 genomesrs797045073
hgdprs797045073
ensemblrs797045073
geneviewrs797045073
scholarrs797045073
googlers797045073
pharmgkbrs797045073
gwascentralrs797045073
openSNPrs797045073
23andMers797045073
SNPshotrs797045073
SNPdbers797045073
MSV3drs797045073
GWAS Ctlgrs797045073
Max Magnitude0
ClinVar
Risk rs797045073(-;-)
Alt rs797045073(-;-)
Reference Rs797045073(TG;TG)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1
CLNDBN Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508266_48508267delTG
CLNSRC Baylor College of Medicine
CLNACC RCV000191137.1,