rs121908117

Orientation

plus

Stabilized

plus

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

Make rs121908117(A;A)

Make rs121908117(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48466707

Gene

TREX1

is a	snp
is	mentioned by
dbSNP	rs121908117
dbSNP (classic)	rs121908117
ClinGen	rs121908117
ebi	rs121908117
HLI	rs121908117
Exac	rs121908117
Gnomad	rs121908117
Varsome	rs121908117
LitVar	rs121908117
Map	rs121908117
PheGenI	rs121908117
Biobank	rs121908117
1000 genomes	rs121908117
hgdp	rs121908117
ensembl	rs121908117
geneview	rs121908117
scholar	rs121908117
google	rs121908117
pharmgkb	rs121908117
gwascentral	rs121908117
openSNP	rs121908117
23andMe	rs121908117
SNPshot	rs121908117
SNPdbe	rs121908117
MSV3d	rs121908117
GWAS Ctlg	rs121908117

Max Magnitude

0

OMIM	606609
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121908117(A;A)
Alt	rs121908117(A;A)
Reference	Rs121908117(G;G)
Significance	Pathogenic
Disease	Chilblain lupus 1 Aicardi Goutieres syndrome 1 Aicardi Goutieres syndrome 1 not provided
Variation	info
Gene	ATRIP TREX1
CLNDBN	Chilblain lupus 1 Aicardi Goutieres syndrome 1, autosomal dominant Aicardi Goutieres syndrome 1 not provided
Reversed	0
HGVS	NC_000003.11:g.48508106G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004404.4, RCV000004405.4, RCV000114329.2, RCV000323773.1,