rs515726140

Orientation

plus

Stabilized

plus

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

Make rs515726140(C;C)

Make rs515726140(C;T)

Reference

GRCh38 38.1/142

Chromosome

20

Position

36912462

Gene

SAMHD1

is a	snp
is	mentioned by
dbSNP	rs515726140
dbSNP (classic)	rs515726140
ClinGen	rs515726140
ebi	rs515726140
HLI	rs515726140
Exac	rs515726140
Gnomad	rs515726140
Varsome	rs515726140
LitVar	rs515726140
Map	rs515726140
PheGenI	rs515726140
Biobank	rs515726140
1000 genomes	rs515726140
hgdp	rs515726140
ensembl	rs515726140
geneview	rs515726140
scholar	rs515726140
google	rs515726140
pharmgkb	rs515726140
gwascentral	rs515726140
openSNP	rs515726140
23andMe	rs515726140
SNPshot	rs515726140
SNPdbe	rs515726140
MSV3d	rs515726140
GWAS Ctlg	rs515726140

Max Magnitude

0

ClinVar
Risk	rs515726140(C;C)
Alt	rs515726140(C;C)
Reference	Rs515726140(T;T)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 5
Variation	info
Gene	SAMHD1
CLNDBN	Aicardi Goutieres syndrome 5
Reversed	0
HGVS	NC_000020.10:g.35540865T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000114346.2,