rs74315290

Orientation

minus

Stabilized

minus

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

Make rs74315290(C;T)

Make rs74315290(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

167439355

Gene

CD247

is a	snp
is	mentioned by
dbSNP	rs74315290
dbSNP (classic)	rs74315290
ClinGen	rs74315290
ebi	rs74315290
HLI	rs74315290
Exac	rs74315290
Gnomad	rs74315290
Varsome	rs74315290
LitVar	rs74315290
Map	rs74315290
PheGenI	rs74315290
Biobank	rs74315290
1000 genomes	rs74315290
hgdp	rs74315290
ensembl	rs74315290
geneview	rs74315290
scholar	rs74315290
google	rs74315290
pharmgkb	rs74315290
gwascentral	rs74315290
openSNP	rs74315290
23andMe	rs74315290
SNPshot	rs74315290
SNPdbe	rs74315290
MSV3d	rs74315290
GWAS Ctlg	rs74315290

Max Magnitude

0

OMIM	186780
Desc
Variant	0001
Related	also

ClinVar
Risk	rs74315290(T;T)
Alt	rs74315290(T;T)
Reference	Rs74315290(C;C)
Significance	Pathogenic
Disease	Immunodeficiency due to defect in cd3-zeta
Variation	info
Gene	CD247
CLNDBN	Immunodeficiency due to defect in cd3-zeta
Reversed	1
HGVS	NC_000001.10:g.167408592G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013586.22,