rs179363873
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs179363873(A;A) |
Make rs179363873(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 44901518 |
Gene | ITGB2 |
is a | snp |
is | mentioned by |
dbSNP | rs179363873 |
dbSNP (classic) | rs179363873 |
ClinGen | rs179363873 |
ebi | rs179363873 |
HLI | rs179363873 |
Exac | rs179363873 |
Gnomad | rs179363873 |
Varsome | rs179363873 |
LitVar | rs179363873 |
Map | rs179363873 |
PheGenI | rs179363873 |
Biobank | rs179363873 |
1000 genomes | rs179363873 |
hgdp | rs179363873 |
ensembl | rs179363873 |
geneview | rs179363873 |
scholar | rs179363873 |
rs179363873 | |
pharmgkb | rs179363873 |
gwascentral | rs179363873 |
openSNP | rs179363873 |
23andMe | rs179363873 |
SNPshot | rs179363873 |
SNPdbe | rs179363873 |
MSV3d | rs179363873 |
GWAS Ctlg | rs179363873 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs179363873(A;A) |
Alt | rs179363873(A;A) |
Reference | Rs179363873(G;G) |
Significance | Pathogenic |
Disease | not provided Leukocyte adhesion deficiency type 1 |
Variation | info |
Gene | ITGB2 |
CLNDBN | not provided Leukocyte adhesion deficiency type 1 |
Reversed | 1 |
HGVS | NC_000021.8:g.46321433C>T |
CLNSRC | UniProtKB (variants) |
CLNACC | RCV000059050.1, RCV000087123.1, |