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rs184953805

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs184953805(A;A)
Make rs184953805(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome3
Position48467284
GeneTREX1
is asnp
is mentioned by
dbSNPrs184953805
dbSNP (old)rs184953805
ClinGenrs184953805
ebirs184953805
HLIrs184953805
Exacrs184953805
Gnomadrs184953805
Varsomers184953805
LitVarrs184953805
Maprs184953805
PheGenIrs184953805
Biobankrs184953805
1000 genomesrs184953805
hgdprs184953805
ensemblrs184953805
gopubmedrs184953805
geneviewrs184953805
scholarrs184953805
googlers184953805
pharmgkbrs184953805
gwascentralrs184953805
openSNPrs184953805
23andMers184953805
23andMe allrs184953805
SNPshotrs184953805
SNPdbers184953805
MSV3drs184953805
GWAS Ctlgrs184953805
Max Magnitude0
ClinVar
Risk rs184953805(A;A)
Alt rs184953805(A;A)
Reference Rs184953805(G;G)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1
CLNDBN Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508683G>A
CLNSRC
CLNACC RCV000408633.1,