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rs74689946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(GG;GG) 0 common in clinvar
Make rs74689946(-;GG)
ReferenceGRCh38 38.1/141
Chromosome3
Position48466868
GeneTREX1
is asnp
is mentioned by
dbSNPrs74689946
dbSNP (classic)rs74689946
ClinGenrs74689946
ebirs74689946
HLIrs74689946
Exacrs74689946
Gnomadrs74689946
Varsomers74689946
LitVarrs74689946
Maprs74689946
PheGenIrs74689946
Biobankrs74689946
1000 genomesrs74689946
hgdprs74689946
ensemblrs74689946
geneviewrs74689946
scholarrs74689946
googlers74689946
pharmgkbrs74689946
gwascentralrs74689946
openSNPrs74689946
23andMers74689946
SNPshotrs74689946
SNPdbers74689946
MSV3drs74689946
GWAS Ctlgrs74689946
Max Magnitude0
ClinVar
Risk rs74689946(TG;TG)
Alt rs74689946(TG;TG)
Reference Rs74689946(-;-)
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_48508267dupTG
CLNSRC ClinVar
CLNACC RCV000114323.2,