rs78948846

Orientation

plus

Stabilized

plus

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

Make rs78948846(-;TGGA)

Make rs78948846(TGGA;TGGA)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48467283

Gene

TREX1

is a	snp
is	mentioned by
dbSNP	rs78948846
dbSNP (classic)	rs78948846
ClinGen	rs78948846
ebi	rs78948846
HLI	rs78948846
Exac	rs78948846
Gnomad	rs78948846
Varsome	rs78948846
LitVar	rs78948846
Map	rs78948846
PheGenI	rs78948846
Biobank	rs78948846
1000 genomes	rs78948846
hgdp	rs78948846
ensembl	rs78948846
geneview	rs78948846
scholar	rs78948846
google	rs78948846
pharmgkb	rs78948846
gwascentral	rs78948846
openSNP	rs78948846
23andMe	rs78948846
SNPshot	rs78948846
SNPdbe	rs78948846
MSV3d	rs78948846
GWAS Ctlg	rs78948846

Max Magnitude

0

ClinVar
Risk	rs78948846(CAGT;CAGT) rs78948846(GTCA;GTCA)
Alt	rs78948846(CAGT;CAGT) rs78948846(GTCA;GTCA)
Reference	Rs78948846(-;-)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 1
Variation	info
Gene	ATRIP TREX1
CLNDBN	Aicardi Goutieres syndrome 1
Reversed	0
HGVS	NC_000003.11:g.48508679_48508682dupCAGT
CLNSRC	ClinVar
CLNACC	RCV000114333.2,