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rs78948846

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(GTG;GTG) 0 common in clinvar
Make rs78948846(-;-)
Make rs78948846(-;TGGA)
Make rs78948846(TGGA;TGGA)
ReferenceGRCh38 38.1/141
Chromosome3
Position48467283
GeneTREX1
is asnp
is mentioned by
dbSNPrs78948846
ebirs78948846
HLIrs78948846
Exacrs78948846
Varsomers78948846
Maprs78948846
PheGenIrs78948846
hapmaprs78948846
1000 genomesrs78948846
hgdprs78948846
ensemblrs78948846
gopubmedrs78948846
geneviewrs78948846
scholarrs78948846
googlers78948846
pharmgkbrs78948846
gwascentralrs78948846
openSNPrs78948846
23andMers78948846
23andMe allrs78948846
SNP Nexus

SNPshotrs78948846
SNPdbers78948846
MSV3drs78948846
GWAS Ctlgrs78948846
Max Magnitude0
ClinVar
Risk rs78948846(GTCA;GTCA)
Alt rs78948846(GTCA;GTCA)
Reference rs78948846(GTG;GTG)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1
CLNDBN Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508679_48508682dupCAGT
CLNSRC ClinVar
CLNACC RCV000114333.2,