rs193922739

Orientation

minus

Stabilized

minus

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

Make rs193922739(CA;TG)

Make rs193922739(TG;TG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

167439354

Gene

CD247

is a	snp
is	mentioned by
dbSNP	rs193922739
dbSNP (classic)	rs193922739
ClinGen	rs193922739
ebi	rs193922739
HLI	rs193922739
Exac	rs193922739
Gnomad	rs193922739
Varsome	rs193922739
LitVar	rs193922739
Map	rs193922739
PheGenI	rs193922739
Biobank	rs193922739
1000 genomes	rs193922739
hgdp	rs193922739
ensembl	rs193922739
geneview	rs193922739
scholar	rs193922739
google	rs193922739
pharmgkb	rs193922739
gwascentral	rs193922739
openSNP	rs193922739
23andMe	rs193922739
SNPshot	rs193922739
SNPdbe	rs193922739
MSV3d	rs193922739
GWAS Ctlg	rs193922739

Max Magnitude

0

ClinVar
Risk	rs193922739(TG;TG)
Alt	rs193922739(TG;TG)
Reference	Rs193922739(CA;CA)
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.167408591_167408592delTGinsCA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013587.4,