rs483352817
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs483352817(-;-) |
Make rs483352817(-;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 44893485 |
Gene | ITGB2 |
is a | snp |
is | mentioned by |
dbSNP | rs483352817 |
dbSNP (classic) | rs483352817 |
ClinGen | rs483352817 |
ebi | rs483352817 |
HLI | rs483352817 |
Exac | rs483352817 |
Gnomad | rs483352817 |
Varsome | rs483352817 |
LitVar | rs483352817 |
Map | rs483352817 |
PheGenI | rs483352817 |
Biobank | rs483352817 |
1000 genomes | rs483352817 |
hgdp | rs483352817 |
ensembl | rs483352817 |
geneview | rs483352817 |
scholar | rs483352817 |
rs483352817 | |
pharmgkb | rs483352817 |
gwascentral | rs483352817 |
openSNP | rs483352817 |
23andMe | rs483352817 |
SNPshot | rs483352817 |
SNPdbe | rs483352817 |
MSV3d | rs483352817 |
GWAS Ctlg | rs483352817 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352817(-;-) |
Alt | rs483352817(-;-) |
Reference | Rs483352817(C;C) |
Significance | Pathogenic |
Disease | Leukocyte adhesion deficiency type 1 |
Variation | info |
Gene | ITGB2 |
CLNDBN | Leukocyte adhesion deficiency type 1 |
Reversed | 1 |
HGVS | NC_000021.8:g.46313400delG |
CLNSRC | ClinVar |
CLNACC | RCV000087109.1, |