rs78300695

Orientation

plus

Stabilized

plus

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

Make rs78300695(-;G)

Make rs78300695(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48466713

Gene

TREX1

is a	snp
is	mentioned by
dbSNP	rs78300695
dbSNP (classic)	rs78300695
ClinGen	rs78300695
ebi	rs78300695
HLI	rs78300695
Exac	rs78300695
Gnomad	rs78300695
Varsome	rs78300695
LitVar	rs78300695
Map	rs78300695
PheGenI	rs78300695
Biobank	rs78300695
1000 genomes	rs78300695
hgdp	rs78300695
ensembl	rs78300695
geneview	rs78300695
scholar	rs78300695
google	rs78300695
pharmgkb	rs78300695
gwascentral	rs78300695
openSNP	rs78300695
23andMe	rs78300695
SNPshot	rs78300695
SNPdbe	rs78300695
MSV3d	rs78300695
GWAS Ctlg	rs78300695

Max Magnitude

0

ClinVar
Risk	rs78300695(G;G)
Alt	rs78300695(G;G)
Reference	Rs78300695(-;-)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 1
Variation	info
Gene	ATRIP TREX1
CLNDBN	Aicardi Goutieres syndrome 1
Reversed	0
HGVS	NC_000003.11:g.48508112dupG
CLNSRC	ClinVar
CLNACC	RCV000114330.2,