rs515726145

Orientation

plus

Stabilized

plus

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

Make rs515726145(C;T)

Make rs515726145(T;T)

Reference

GRCh38 38.1/142

Chromosome

20

Position

36935104

Gene

SAMHD1

is a	snp
is	mentioned by
dbSNP	rs515726145
dbSNP (classic)	rs515726145
ClinGen	rs515726145
ebi	rs515726145
HLI	rs515726145
Exac	rs515726145
Gnomad	rs515726145
Varsome	rs515726145
LitVar	rs515726145
Map	rs515726145
PheGenI	rs515726145
Biobank	rs515726145
1000 genomes	rs515726145
hgdp	rs515726145
ensembl	rs515726145
geneview	rs515726145
scholar	rs515726145
google	rs515726145
pharmgkb	rs515726145
gwascentral	rs515726145
openSNP	rs515726145
23andMe	rs515726145
SNPshot	rs515726145
SNPdbe	rs515726145
MSV3d	rs515726145
GWAS Ctlg	rs515726145

Max Magnitude

0

ClinVar
Risk	rs515726145(T;T)
Alt	rs515726145(T;T)
Reference	Rs515726145(C;C)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 5
Variation	info
Gene	SAMHD1
CLNDBN	Aicardi Goutieres syndrome 5
Reversed	0
HGVS	NC_000020.10:g.35563507C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000114353.2,