rs78379807

Orientation

plus

Stabilized

plus

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

Make rs78379807(-;CTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTG)

Make rs78379807(CTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTG;CTCACGCCAGGCCTTTCGGCACCATCAGGCCCATGTATGGGGTCACAGCCTCTG)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48467317

Gene	SHISA5, TREX1

is a	snp
is	mentioned by
dbSNP	rs78379807
dbSNP (classic)	rs78379807
ClinGen	rs78379807
ebi	rs78379807
HLI	rs78379807
Exac	rs78379807
Gnomad	rs78379807
Varsome	rs78379807
LitVar	rs78379807
Map	rs78379807
PheGenI	rs78379807
Biobank	rs78379807
1000 genomes	rs78379807
hgdp	rs78379807
ensembl	rs78379807
geneview	rs78379807
scholar	rs78379807
google	rs78379807
pharmgkb	rs78379807
gwascentral	rs78379807
openSNP	rs78379807
23andMe	rs78379807
SNPshot	rs78379807
SNPdbe	rs78379807
MSV3d	rs78379807
GWAS Ctlg	rs78379807

Max Magnitude

0

ClinVar
Risk	rs78379807(GCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGAT;GCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGAT)
Alt	rs78379807(GCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGAT;GCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGAT)
Reference	Rs78379807(-;-)
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.48508663_48508716dup54
CLNSRC	ClinVar
CLNACC	RCV000114332.2,