rs483352813
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs483352813(-;C) |
Make rs483352813(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 44901656 |
Gene | ITGB2 |
is a | snp |
is | mentioned by |
dbSNP | rs483352813 |
dbSNP (classic) | rs483352813 |
ClinGen | rs483352813 |
ebi | rs483352813 |
HLI | rs483352813 |
Exac | rs483352813 |
Gnomad | rs483352813 |
Varsome | rs483352813 |
LitVar | rs483352813 |
Map | rs483352813 |
PheGenI | rs483352813 |
Biobank | rs483352813 |
1000 genomes | rs483352813 |
hgdp | rs483352813 |
ensembl | rs483352813 |
geneview | rs483352813 |
scholar | rs483352813 |
rs483352813 | |
pharmgkb | rs483352813 |
gwascentral | rs483352813 |
openSNP | rs483352813 |
23andMe | rs483352813 |
SNPshot | rs483352813 |
SNPdbe | rs483352813 |
MSV3d | rs483352813 |
GWAS Ctlg | rs483352813 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs483352813(C;C) |
Alt | rs483352813(C;C) |
Reference | Rs483352813(-;-) |
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.46321572dupG |
CLNSRC | ClinVar |
CLNACC | RCV000087120.1, RCV000209072.1, |