rs2230528
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs2230528(A;A) |
Make rs2230528(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 44900398 |
Gene | ITGB2 |
is a | snp |
is | mentioned by |
dbSNP | rs2230528 |
dbSNP (classic) | rs2230528 |
ClinGen | rs2230528 |
ebi | rs2230528 |
HLI | rs2230528 |
Exac | rs2230528 |
Gnomad | rs2230528 |
Varsome | rs2230528 |
LitVar | rs2230528 |
Map | rs2230528 |
PheGenI | rs2230528 |
Biobank | rs2230528 |
1000 genomes | rs2230528 |
hgdp | rs2230528 |
ensembl | rs2230528 |
geneview | rs2230528 |
scholar | rs2230528 |
rs2230528 | |
pharmgkb | rs2230528 |
gwascentral | rs2230528 |
openSNP | rs2230528 |
23andMe | rs2230528 |
SNPshot | rs2230528 |
SNPdbe | rs2230528 |
MSV3d | rs2230528 |
GWAS Ctlg | rs2230528 |
GMAF | 0.1896 |
Max Magnitude | 0 |
[PMID 21605946] Development of a multicomponent prediction model for acute esophagitis in lung cancer patients receiving chemoradiotherapy
? | (A;A) (A;G) (G;G) | |
---|---|---|
|
[PMID 18426996] Relations of inflammatory biomarkers and common genetic variants with arterial stiffness and wave reflection.
ClinVar | |
---|---|
Risk | rs2230528(A;A) rs2230528(C;C) rs2230528(T;T) |
Alt | rs2230528(A;A) rs2230528(C;C) rs2230528(T;T) |
Reference | Rs2230528(G;G) |
Significance | Non-pathogenic |
Disease | Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency not specified |
Variation | info |
Gene | ITGB2 |
CLNDBN | Leukocyte adhesion deficiency type 1 Leukocyte adhesion deficiency not specified |
Reversed | 1 |
HGVS | NC_000021.8:g.46320313C>T |
CLNSRC | ClinVar |
CLNACC | RCV000087125.1, RCV000354913.1, RCV000454782.1, |