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rs760838030

From SNPedia

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Geno Mag Summary
(C;C) 0 common in clinvar
Make rs760838030(C;T)
Make rs760838030(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position48466995
GeneTREX1
is asnp
is mentioned by
dbSNPrs760838030
ebirs760838030
HLIrs760838030
Exacrs760838030
Varsomers760838030
Maprs760838030
PheGenIrs760838030
hapmaprs760838030
1000 genomesrs760838030
hgdprs760838030
ensemblrs760838030
gopubmedrs760838030
geneviewrs760838030
scholarrs760838030
googlers760838030
pharmgkbrs760838030
gwascentralrs760838030
openSNPrs760838030
23andMers760838030
23andMe allrs760838030
SNP Nexus

SNPshotrs760838030
SNPdbers760838030
MSV3drs760838030
GWAS Ctlgrs760838030
Max Magnitude0
ClinVar
Risk rs760838030(T;T)
Alt rs760838030(T;T)
Reference rs760838030(C;C)
Significance Probable-Pathogenic
Disease Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1
CLNDBN Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508394C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191136.1,