rs121434517

Orientation

minus

Stabilized

minus

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

Make rs121434517(C;T)

Make rs121434517(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

36935105

Gene

SAMHD1

is a	snp
is	mentioned by
dbSNP	rs121434517
dbSNP (classic)	rs121434517
ClinGen	rs121434517
ebi	rs121434517
HLI	rs121434517
Exac	rs121434517
Gnomad	rs121434517
Varsome	rs121434517
LitVar	rs121434517
Map	rs121434517
PheGenI	rs121434517
Biobank	rs121434517
1000 genomes	rs121434517
hgdp	rs121434517
ensembl	rs121434517
geneview	rs121434517
scholar	rs121434517
google	rs121434517
pharmgkb	rs121434517
gwascentral	rs121434517
openSNP	rs121434517
23andMe	rs121434517
SNPshot	rs121434517
SNPdbe	rs121434517
MSV3d	rs121434517
GWAS Ctlg	rs121434517

Max Magnitude

0

OMIM	606754
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434517(T;T)
Alt	rs121434517(T;T)
Reference	Rs121434517(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.35563508G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004282.5,