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rs74556809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0
(ATG;ATG) 0 common in clinvar
Make rs74556809(-;GAT)
Make rs74556809(GAT;GAT)
ReferenceGRCh38 38.1/141
Chromosome3
Position48467255
GeneTREX1
is asnp
is mentioned by
dbSNPrs74556809
ebirs74556809
HLIrs74556809
Exacrs74556809
Varsomers74556809
Maprs74556809
PheGenIrs74556809
hapmaprs74556809
1000 genomesrs74556809
hgdprs74556809
ensemblrs74556809
gopubmedrs74556809
geneviewrs74556809
scholarrs74556809
googlers74556809
pharmgkbrs74556809
gwascentralrs74556809
openSNPrs74556809
23andMers74556809
23andMe allrs74556809
SNP Nexus

SNPshotrs74556809
SNPdbers74556809
MSV3drs74556809
GWAS Ctlgrs74556809
Max Magnitude0
OMIM606609
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74556809(TGA;TGA)
Alt rs74556809(TGA;TGA)
Reference rs74556809(ATG;ATG)
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,


[PMID 16845398] Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus.