rs79993407

Orientation

plus

Stabilized

plus

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

Make rs79993407(C;C)

Make rs79993407(C;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48467020

Gene

TREX1

is a	snp
is	mentioned by
dbSNP	rs79993407
dbSNP (classic)	rs79993407
ClinGen	rs79993407
ebi	rs79993407
HLI	rs79993407
Exac	rs79993407
Gnomad	rs79993407
Varsome	rs79993407
LitVar	rs79993407
Map	rs79993407
PheGenI	rs79993407
Biobank	rs79993407
1000 genomes	rs79993407
hgdp	rs79993407
ensembl	rs79993407
geneview	rs79993407
scholar	rs79993407
google	rs79993407
pharmgkb	rs79993407
gwascentral	rs79993407
openSNP	rs79993407
23andMe	rs79993407
SNPshot	rs79993407
SNPdbe	rs79993407
MSV3d	rs79993407
GWAS Ctlg	rs79993407

Max Magnitude

0

ClinVar
Risk	rs79993407(C;C)
Alt	rs79993407(C;C)
Reference	Rs79993407(T;T)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 1
Variation	info
Gene	ATRIP TREX1
CLNDBN	Aicardi Goutieres syndrome 1
Reversed	0
HGVS	NC_000003.11:g.48508419T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000114324.2,