rs121434518

Orientation

minus

Stabilized

minus

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

Make rs121434518(C;T)

Make rs121434518(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

36935093

Gene

SAMHD1

is a	snp
is	mentioned by
dbSNP	rs121434518
dbSNP (classic)	rs121434518
ClinGen	rs121434518
ebi	rs121434518
HLI	rs121434518
Exac	rs121434518
Gnomad	rs121434518
Varsome	rs121434518
LitVar	rs121434518
Map	rs121434518
PheGenI	rs121434518
Biobank	rs121434518
1000 genomes	rs121434518
hgdp	rs121434518
ensembl	rs121434518
geneview	rs121434518
scholar	rs121434518
google	rs121434518
pharmgkb	rs121434518
gwascentral	rs121434518
openSNP	rs121434518
23andMe	rs121434518
SNPshot	rs121434518
SNPdbe	rs121434518
MSV3d	rs121434518
GWAS Ctlg	rs121434518

Max Magnitude

0

OMIM	606754
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121434518(T;T)
Alt	rs121434518(T;T)
Reference	Rs121434518(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.35563496G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004285.3,