rs79318303

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CCACTGGGTCTGCTGGCC;CCACTGGGTCTGCTGGCC)	0	common in clinvar
(CTGCTGGCCCCACTGGGT;CTGCTGGCCCCACTGGGT)	0	common in clinvar

Make rs79318303(-;-)

Make rs79318303(-;CCACTGGGTCTGCTGGCC)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48467523

Gene	SHISA5, TREX1

is a	snp
is	mentioned by
dbSNP	rs79318303
dbSNP (classic)	rs79318303
ClinGen	rs79318303
ebi	rs79318303
HLI	rs79318303
Exac	rs79318303
Gnomad	rs79318303
Varsome	rs79318303
LitVar	rs79318303
Map	rs79318303
PheGenI	rs79318303
Biobank	rs79318303
1000 genomes	rs79318303
hgdp	rs79318303
ensembl	rs79318303
geneview	rs79318303
scholar	rs79318303
google	rs79318303
pharmgkb	rs79318303
gwascentral	rs79318303
openSNP	rs79318303
23andMe	rs79318303
SNPshot	rs79318303
SNPdbe	rs79318303
MSV3d	rs79318303
GWAS Ctlg	rs79318303

Max Magnitude

0

ClinVar
Risk	rs79318303(-;-) Rs79318303(CTGCTGGCCCCACTGGGT;CTGCTGGCCCCACTGGGT)
Alt	rs79318303(-;-) Rs79318303(CTGCTGGCCCCACTGGGT;CTGCTGGCCCCACTGGGT)
Reference	Rs79318303(CCACTGGGTCTGCTGGCC;CCACTGGGTCTGCTGGCC)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 1
Variation	info
Gene	ATRIP TREX1 SHISA5
CLNDBN	Aicardi Goutieres syndrome 1
Reversed	0
HGVS	NC_000003.11:g.48508922_48508939del18
CLNSRC	ClinVar
CLNACC	RCV000114334.2,