rs483352929

Orientation

plus

Stabilized

plus

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

Make rs483352929(-;-)

Make rs483352929(-;CC)

Reference

GRCh38 38.1/142

Chromosome

11

Position

118312642

Gene

CD3E

is a	snp
is	mentioned by
dbSNP	rs483352929
dbSNP (classic)	rs483352929
ClinGen	rs483352929
ebi	rs483352929
HLI	rs483352929
Exac	rs483352929
Gnomad	rs483352929
Varsome	rs483352929
LitVar	rs483352929
Map	rs483352929
PheGenI	rs483352929
Biobank	rs483352929
1000 genomes	rs483352929
hgdp	rs483352929
ensembl	rs483352929
geneview	rs483352929
scholar	rs483352929
google	rs483352929
pharmgkb	rs483352929
gwascentral	rs483352929
openSNP	rs483352929
23andMe	rs483352929
SNPshot	rs483352929
SNPdbe	rs483352929
MSV3d	rs483352929
GWAS Ctlg	rs483352929

Max Magnitude

0

ClinVar
Risk	rs483352929(-;-)
Alt	rs483352929(-;-)
Reference	Rs483352929(CC;CC)
Significance	Pathogenic
Disease	Immunodeficiency 18
Variation	info
Gene	CD3E
CLNDBN	Immunodeficiency 18, severe combined immunodeficiency variant
Reversed	0
HGVS	NC_000011.9:g.118183357_118183358delCC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000087026.3,