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rs72556554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72556554(A;A)
Make rs72556554(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position48466996
GeneTREX1
is asnp
is mentioned by
dbSNPrs72556554
ebirs72556554
HLIrs72556554
Exacrs72556554
Varsomers72556554
Maprs72556554
PheGenIrs72556554
hapmaprs72556554
1000 genomesrs72556554
hgdprs72556554
ensemblrs72556554
gopubmedrs72556554
geneviewrs72556554
scholarrs72556554
googlers72556554
pharmgkbrs72556554
gwascentralrs72556554
openSNPrs72556554
23andMers72556554
23andMe allrs72556554
SNP Nexus

SNPshotrs72556554
SNPdbers72556554
MSV3drs72556554
GWAS Ctlgrs72556554
Max Magnitude0
OMIM606609
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72556554(A,C;A,C)
Alt rs72556554(A,C;A,C)
Reference rs72556554(G;G)
Significance Other
Disease Aicardi Goutieres syndrome 1 Systemic lupus erythematosus
Variation info
Gene ATRIP TREX1
CLNDBN Aicardi Goutieres syndrome 1 Systemic lupus erythematosus, susceptibility to
Reversed 0
HGVS NC_000003.11:g.48508395G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004396.4, RCV000004397.2,



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

[PMID 17660818] Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

[PMID 17846997OA-icon.png] Clinical and molecular phenotype of Aicardi-Goutieres syndrome.