rs515726146

Orientation

plus

Stabilized

plus

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

Make rs515726146(-;C)

Make rs515726146(C;C)

Reference

GRCh38 38.1/142

Chromosome

20

Position

36927228

Gene

SAMHD1

is a	snp
is	mentioned by
dbSNP	rs515726146
dbSNP (classic)	rs515726146
ClinGen	rs515726146
ebi	rs515726146
HLI	rs515726146
Exac	rs515726146
Gnomad	rs515726146
Varsome	rs515726146
LitVar	rs515726146
Map	rs515726146
PheGenI	rs515726146
Biobank	rs515726146
1000 genomes	rs515726146
hgdp	rs515726146
ensembl	rs515726146
geneview	rs515726146
scholar	rs515726146
google	rs515726146
pharmgkb	rs515726146
gwascentral	rs515726146
openSNP	rs515726146
23andMe	rs515726146
SNPshot	rs515726146
SNPdbe	rs515726146
MSV3d	rs515726146
GWAS Ctlg	rs515726146

Max Magnitude

0

SAMHD1 c.649_650insG

ClinVar
Risk	rs515726146(C;C)
Alt	rs515726146(C;C)
Reference	Rs515726146(-;-)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 5
Variation	info
Gene	SAMHD1
CLNDBN	Aicardi Goutieres syndrome 5
Reversed	0
HGVS	NC_000020.10:g.35555631_35555632insC
CLNSRC	ClinVar
CLNACC	RCV000114354.2,