rs76224909

Orientation

plus

Stabilized

plus

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

Make rs76224909(A;C)

Make rs76224909(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

48467562

Gene	SHISA5, TREX1

is a	snp
is	mentioned by
dbSNP	rs76224909
dbSNP (classic)	rs76224909
ClinGen	rs76224909
ebi	rs76224909
HLI	rs76224909
Exac	rs76224909
Gnomad	rs76224909
Varsome	rs76224909
LitVar	rs76224909
Map	rs76224909
PheGenI	rs76224909
Biobank	rs76224909
1000 genomes	rs76224909
hgdp	rs76224909
ensembl	rs76224909
geneview	rs76224909
scholar	rs76224909
google	rs76224909
pharmgkb	rs76224909
gwascentral	rs76224909
openSNP	rs76224909
23andMe	rs76224909
SNPshot	rs76224909
SNPdbe	rs76224909
MSV3d	rs76224909
GWAS Ctlg	rs76224909

Max Magnitude

0

ClinVar
Risk	rs76224909(C;C)
Alt	rs76224909(C;C)
Reference	Rs76224909(A;A)
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.48508961A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000114335.2,