rs515726144

Orientation

plus

Stabilized

plus

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

Make rs515726144(-;-)

Make rs515726144(-;CATGGATAGGAT)

Reference

GRCh38 38.1/142

Chromosome

20

Position

36935168

Gene

SAMHD1

is a	snp
is	mentioned by
dbSNP	rs515726144
dbSNP (classic)	rs515726144
ClinGen	rs515726144
ebi	rs515726144
HLI	rs515726144
Exac	rs515726144
Gnomad	rs515726144
Varsome	rs515726144
LitVar	rs515726144
Map	rs515726144
PheGenI	rs515726144
Biobank	rs515726144
1000 genomes	rs515726144
hgdp	rs515726144
ensembl	rs515726144
geneview	rs515726144
scholar	rs515726144
google	rs515726144
pharmgkb	rs515726144
gwascentral	rs515726144
openSNP	rs515726144
23andMe	rs515726144
SNPshot	rs515726144
SNPdbe	rs515726144
MSV3d	rs515726144
GWAS Ctlg	rs515726144

Max Magnitude

0

ClinVar
Risk	rs515726144(-;-)
Alt	rs515726144(-;-)
Reference	Rs515726144(CATGGATAGGAT;CATGGATAGGAT)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 5
Variation	info
Gene	SAMHD1
CLNDBN	Aicardi Goutieres syndrome 5
Reversed	0
HGVS	NC_000020.10:g.35563571_35563582delCATGGATAGGAT
CLNSRC	ClinVar
CLNACC	RCV000114351.2,