rs5030672

Orientation

minus

Stabilized

minus

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

Make rs5030672(C;T)

Make rs5030672(T;T)

Reference

GRCh38 38.1/142

Chromosome

21

Position

44889397

Gene

ITGB2

is a	snp
is	mentioned by
dbSNP	rs5030672
dbSNP (classic)	rs5030672
ClinGen	rs5030672
ebi	rs5030672
HLI	rs5030672
Exac	rs5030672
Gnomad	rs5030672
Varsome	rs5030672
LitVar	rs5030672
Map	rs5030672
PheGenI	rs5030672
Biobank	rs5030672
1000 genomes	rs5030672
hgdp	rs5030672
ensembl	rs5030672
geneview	rs5030672
scholar	rs5030672
google	rs5030672
pharmgkb	rs5030672
gwascentral	rs5030672
openSNP	rs5030672
23andMe	rs5030672
SNPshot	rs5030672
SNPdbe	rs5030672
MSV3d	rs5030672
GWAS Ctlg	rs5030672

GMAF

0.004132

Max Magnitude

0

OMIM	600065
Desc
Variant	0006
Related	also

ClinVar
Risk	rs5030672(T;T)
Alt	rs5030672(T;T)
Reference	Rs5030672(C;C)
Significance	Other
Disease	Leukocyte adhesion deficiency
Variation	info
Gene	ITGB2
CLNDBN	Leukocyte adhesion deficiency
Reversed	1
HGVS	NC_000021.8:g.46309312G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010071.5,