rs9983887
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs9983887(A;A) |
Make rs9983887(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 44903541 |
Gene | ITGB2 |
is a | snp |
is | mentioned by |
dbSNP | rs9983887 |
dbSNP (classic) | rs9983887 |
ClinGen | rs9983887 |
ebi | rs9983887 |
HLI | rs9983887 |
Exac | rs9983887 |
Gnomad | rs9983887 |
Varsome | rs9983887 |
LitVar | rs9983887 |
Map | rs9983887 |
PheGenI | rs9983887 |
Biobank | rs9983887 |
1000 genomes | rs9983887 |
hgdp | rs9983887 |
ensembl | rs9983887 |
geneview | rs9983887 |
scholar | rs9983887 |
rs9983887 | |
pharmgkb | rs9983887 |
gwascentral | rs9983887 |
openSNP | rs9983887 |
23andMe | rs9983887 |
SNPshot | rs9983887 |
SNPdbe | rs9983887 |
MSV3d | rs9983887 |
GWAS Ctlg | rs9983887 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs9983887(A;A) rs9983887(C;C) |
Alt | rs9983887(A;A) rs9983887(C;C) |
Reference | Rs9983887(G;G) |
Significance | Pathogenic |
Disease | Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency |
Variation | info |
Gene | ITGB2 |
CLNDBN | Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency |
Reversed | 0 |
HGVS | NC_000021.8:g.46323456G>A |
CLNSRC | ClinVar |
CLNACC | RCV000087116.1, RCV000403195.1, |