rs121434519

Orientation

minus

Stabilized

minus

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

Make rs121434519(C;T)

Make rs121434519(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

36897926

Gene

SAMHD1

is a	snp
is	mentioned by
dbSNP	rs121434519
dbSNP (classic)	rs121434519
ClinGen	rs121434519
ebi	rs121434519
HLI	rs121434519
Exac	rs121434519
Gnomad	rs121434519
Varsome	rs121434519
LitVar	rs121434519
Map	rs121434519
PheGenI	rs121434519
Biobank	rs121434519
1000 genomes	rs121434519
hgdp	rs121434519
ensembl	rs121434519
geneview	rs121434519
scholar	rs121434519
google	rs121434519
pharmgkb	rs121434519
gwascentral	rs121434519
openSNP	rs121434519
23andMe	rs121434519
SNPshot	rs121434519
SNPdbe	rs121434519
MSV3d	rs121434519
GWAS Ctlg	rs121434519

Max Magnitude

0

OMIM	606754
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121434519(T;T)
Alt	rs121434519(T;T)
Reference	Rs121434519(C;C)
Significance	Pathogenic
Disease	Aicardi Goutieres syndrome 5
Variation	info
Gene	SAMHD1
CLNDBN	Aicardi Goutieres syndrome 5
Reversed	1
HGVS	NC_000020.10:g.35526329G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004286.3,