rs72556554

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs72556554(A;A)

Make rs72556554(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48466996

Gene

TREX1

is a	snp
is	mentioned by
dbSNP	rs72556554
dbSNP (classic)	rs72556554
ClinGen	rs72556554
ebi	rs72556554
HLI	rs72556554
Exac	rs72556554
Gnomad	rs72556554
Varsome	rs72556554
LitVar	rs72556554
Map	rs72556554
PheGenI	rs72556554
Biobank	rs72556554
1000 genomes	rs72556554
hgdp	rs72556554
ensembl	rs72556554
geneview	rs72556554
scholar	rs72556554
google	rs72556554
pharmgkb	rs72556554
gwascentral	rs72556554
openSNP	rs72556554
23andMe	rs72556554
SNPshot	rs72556554
SNPdbe	rs72556554
MSV3d	rs72556554
GWAS Ctlg	rs72556554

Max Magnitude

0

OMIM	606609
Desc
Variant	0001
Related	also

ClinVar
Risk	rs72556554(A;A) rs72556554(C;C)
Alt	rs72556554(A;A) rs72556554(C;C)
Reference	Rs72556554(G;G)
Significance	Other
Disease	Aicardi Goutieres syndrome 1 Systemic lupus erythematosus not provided Aicardi Goutieres syndrome Vasculopathy
Variation	info
Gene	ATRIP TREX1
CLNDBN	Aicardi Goutieres syndrome 1 Systemic lupus erythematosus, susceptibility to not provided Aicardi Goutieres syndrome Vasculopathy, retinal, with cerebral leukodystrophy
Reversed	0
HGVS	NC_000003.11:g.48508395G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004396.7, RCV000004397.4, RCV000256102.2, RCV000295986.1, RCV000388382.1,

[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 17846997] Clinical and molecular phenotype of Aicardi-Goutieres syndrome.