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rs79993407

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs79993407(C;C)
Make rs79993407(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position48467020
GeneTREX1
is asnp
is mentioned by
dbSNPrs79993407
ebirs79993407
HLIrs79993407
Exacrs79993407
Varsomers79993407
Maprs79993407
PheGenIrs79993407
hapmaprs79993407
1000 genomesrs79993407
hgdprs79993407
ensemblrs79993407
gopubmedrs79993407
geneviewrs79993407
scholarrs79993407
googlers79993407
pharmgkbrs79993407
gwascentralrs79993407
openSNPrs79993407
23andMers79993407
23andMe allrs79993407
SNP Nexus

SNPshotrs79993407
SNPdbers79993407
MSV3drs79993407
GWAS Ctlgrs79993407
Max Magnitude0
ClinVar
Risk rs79993407(C;C)
Alt rs79993407(C;C)
Reference rs79993407(T;T)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1
CLNDBN Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508419T>C
CLNSRC ClinVar
CLNACC RCV000114324.2,