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rs78300695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(TGA;TGA) 0 common in clinvar
Make rs78300695(-;-)
Make rs78300695(-;G)
Make rs78300695(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48466713
GeneTREX1
is asnp
is mentioned by
dbSNPrs78300695
ebirs78300695
HLIrs78300695
Exacrs78300695
Varsomers78300695
Maprs78300695
PheGenIrs78300695
hapmaprs78300695
1000 genomesrs78300695
hgdprs78300695
ensemblrs78300695
gopubmedrs78300695
geneviewrs78300695
scholarrs78300695
googlers78300695
pharmgkbrs78300695
gwascentralrs78300695
openSNPrs78300695
23andMers78300695
23andMe allrs78300695
SNP Nexus

SNPshotrs78300695
SNPdbers78300695
MSV3drs78300695
GWAS Ctlgrs78300695
Max Magnitude0
ClinVar
Risk rs78300695(G;G)
Alt rs78300695(G;G)
Reference rs78300695(TGA;TGA)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1
CLNDBN Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508112dupG
CLNSRC ClinVar
CLNACC RCV000114330.2,