rs74556809

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(;)	0	common in clinvar
(-;-)	0	common in clinvar
(ATG;ATG)	0	common in clinvar

Make rs74556809(-;GAT)

Make rs74556809(GAT;GAT)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48467255

Gene

TREX1

is a	snp
is	mentioned by
dbSNP	rs74556809
dbSNP (classic)	rs74556809
ClinGen	rs74556809
ebi	rs74556809
HLI	rs74556809
Exac	rs74556809
Gnomad	rs74556809
Varsome	rs74556809
LitVar	rs74556809
Map	rs74556809
PheGenI	rs74556809
Biobank	rs74556809
1000 genomes	rs74556809
hgdp	rs74556809
ensembl	rs74556809
geneview	rs74556809
scholar	rs74556809
google	rs74556809
pharmgkb	rs74556809
gwascentral	rs74556809
openSNP	rs74556809
23andMe	rs74556809
SNPshot	rs74556809
SNPdbe	rs74556809
MSV3d	rs74556809
GWAS Ctlg	rs74556809

Merged from

Rs606231142

Max Magnitude

0

OMIM	606609
Desc
Variant	0003
Related	also

ClinVar
Risk	Rs74556809(ATG;ATG) rs74556809(GAT;GAT) rs74556809(TGA;TGA)
Alt	Rs74556809(ATG;ATG) rs74556809(GAT;GAT) rs74556809(TGA;TGA)
Reference	Rs74556809(-;-)
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	RCV000004399.6,

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