rs201752283

Orientation

plus

Stabilized

plus

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

Make rs201752283(C;T)

Make rs201752283(T;T)

Reference

GRCh38 38.1/142

Chromosome

21

Position

44900319

Gene

ITGB2

is a	snp
is	mentioned by
dbSNP	rs201752283
dbSNP (classic)	rs201752283
ClinGen	rs201752283
ebi	rs201752283
HLI	rs201752283
Exac	rs201752283
Gnomad	rs201752283
Varsome	rs201752283
LitVar	rs201752283
Map	rs201752283
PheGenI	rs201752283
Biobank	rs201752283
1000 genomes	rs201752283
hgdp	rs201752283
ensembl	rs201752283
geneview	rs201752283
scholar	rs201752283
google	rs201752283
pharmgkb	rs201752283
gwascentral	rs201752283
openSNP	rs201752283
23andMe	rs201752283
SNPshot	rs201752283
SNPdbe	rs201752283
MSV3d	rs201752283
GWAS Ctlg	rs201752283

Max Magnitude

0

ClinVar
Risk	rs201752283(A;A) rs201752283(T;T)
Alt	rs201752283(A;A) rs201752283(T;T)
Reference	Rs201752283(C;C)
Significance	Pathogenic
Disease	Leukocyte adhesion deficiency type 1
Variation	info
Gene	ITGB2
CLNDBN	Leukocyte adhesion deficiency type 1
Reversed	0
HGVS	NC_000021.8:g.46320234C>A; NC_000021.8:g.46320234C>T
CLNSRC	ClinVar
CLNACC	RCV000087128.1, RCV000087127.1,