rs121434521

Orientation

minus

Stabilized

minus

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

Make rs121434521(A;G)

Make rs121434521(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

36919456

Gene

SAMHD1

is a	snp
is	mentioned by
dbSNP	rs121434521
dbSNP (classic)	rs121434521
ClinGen	rs121434521
ebi	rs121434521
HLI	rs121434521
Exac	rs121434521
Gnomad	rs121434521
Varsome	rs121434521
LitVar	rs121434521
Map	rs121434521
PheGenI	rs121434521
Biobank	rs121434521
1000 genomes	rs121434521
hgdp	rs121434521
ensembl	rs121434521
geneview	rs121434521
scholar	rs121434521
google	rs121434521
pharmgkb	rs121434521
gwascentral	rs121434521
openSNP	rs121434521
23andMe	rs121434521
SNPshot	rs121434521
SNPdbe	rs121434521
MSV3d	rs121434521
GWAS Ctlg	rs121434521

Max Magnitude

0

OMIM	606754
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121434521(G;G)
Alt	rs121434521(G;G)
Reference	Rs121434521(A;A)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 5
Variation	info
Gene	SAMHD1
CLNDBN	Aicardi Goutieres syndrome 5
Reversed	1
HGVS	NC_000020.10:g.35547859T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004288.5,