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rs606231142

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231142(-;-)
Make rs606231142(-;ATG)
Make rs606231142(ATG;ATG)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position48467256
GeneTREX1
is asnp
is mentioned by
dbSNPrs606231142
ebirs606231142
HLIrs606231142
Exacrs606231142
Varsomers606231142
Maprs606231142
PheGenIrs606231142
hapmaprs606231142
1000 genomesrs606231142
hgdprs606231142
ensemblrs606231142
gopubmedrs606231142
geneviewrs606231142
scholarrs606231142
googlers606231142
pharmgkbrs606231142
gwascentralrs606231142
openSNPrs606231142
23andMers606231142
23andMe allrs606231142
SNP Nexus

SNPshotrs606231142
SNPdbers606231142
MSV3drs606231142
GWAS Ctlgrs606231142
Max Magnitude0
ClinVar
Risk rs606231142(TGA;TGA)
Alt rs606231142(TGA;TGA)
Reference rs606231142(;)
Significance Pathogenic
Disease Aicardi Goutieres syndrome 1
Variation info
Gene ATRIP TREX1
CLNDBN Aicardi Goutieres syndrome 1
Reversed 0
HGVS NC_000003.11:g.48508653_48508655dupATG
CLNSRC OMIM Allelic Variant
CLNACC RCV000004399.4,