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rs74876396

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(CAG;CAG) 0 common in clinvar
Make rs74876396(-;AGAGCTGGCTATGCTG)
Make rs74876396(AGAGCTGGCTATGCTG;AGAGCTGGCTATGCTG)
ReferenceGRCh38 38.1/141
Chromosome3
Position48467063
GeneTREX1
is asnp
is mentioned by
dbSNPrs74876396
dbSNP (classic)rs74876396
ClinGenrs74876396
ebirs74876396
HLIrs74876396
Exacrs74876396
Gnomadrs74876396
Varsomers74876396
LitVarrs74876396
Maprs74876396
PheGenIrs74876396
Biobankrs74876396
1000 genomesrs74876396
hgdprs74876396
ensemblrs74876396
geneviewrs74876396
scholarrs74876396
googlers74876396
pharmgkbrs74876396
gwascentralrs74876396
openSNPrs74876396
23andMers74876396
SNPshotrs74876396
SNPdbers74876396
MSV3drs74876396
GWAS Ctlgrs74876396
Max Magnitude0
ClinVar
Risk rs74876396(CCCCCTGCTCCAAGCA;CCCCCTGCTCCAAGCA)
Alt rs74876396(CCCCCTGCTCCAAGCA;CCCCCTGCTCCAAGCA)
Reference Rs74876396(-;-)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1
CLNDBN Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508447_48508462dup16
CLNSRC ClinVar
CLNACC RCV000114326.2,