rs78218009

Orientation

plus

Stabilized

plus

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

Make rs78218009(C;T)

Make rs78218009(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48467145

Gene

TREX1

is a	snp
is	mentioned by
dbSNP	rs78218009
dbSNP (classic)	rs78218009
ClinGen	rs78218009
ebi	rs78218009
HLI	rs78218009
Exac	rs78218009
Gnomad	rs78218009
Varsome	rs78218009
LitVar	rs78218009
Map	rs78218009
PheGenI	rs78218009
Biobank	rs78218009
1000 genomes	rs78218009
hgdp	rs78218009
ensembl	rs78218009
geneview	rs78218009
scholar	rs78218009
google	rs78218009
pharmgkb	rs78218009
gwascentral	rs78218009
openSNP	rs78218009
23andMe	rs78218009
SNPshot	rs78218009
SNPdbe	rs78218009
MSV3d	rs78218009
GWAS Ctlg	rs78218009

Max Magnitude

0

OMIM	606609
Desc
Variant	0002
Related	also

ClinVar
Risk	rs78218009(T;T)
Alt	rs78218009(T;T)
Reference	Rs78218009(C;C)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 1 not provided
Variation	info
Gene	ATRIP TREX1
CLNDBN	Aicardi Goutieres syndrome 1 not provided
Reversed	0
HGVS	NC_000003.11:g.48508544C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004398.5, RCV000378411.1,

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