rs2070947
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs2070947(C;C) |
Make rs2070947(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 44920928 |
Gene | ITGB2, ITGB2-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs2070947 |
dbSNP (classic) | rs2070947 |
ClinGen | rs2070947 |
ebi | rs2070947 |
HLI | rs2070947 |
Exac | rs2070947 |
Gnomad | rs2070947 |
Varsome | rs2070947 |
LitVar | rs2070947 |
Map | rs2070947 |
PheGenI | rs2070947 |
Biobank | rs2070947 |
1000 genomes | rs2070947 |
hgdp | rs2070947 |
ensembl | rs2070947 |
geneview | rs2070947 |
scholar | rs2070947 |
rs2070947 | |
pharmgkb | rs2070947 |
gwascentral | rs2070947 |
openSNP | rs2070947 |
23andMe | rs2070947 |
SNPshot | rs2070947 |
SNPdbe | rs2070947 |
MSV3d | rs2070947 |
GWAS Ctlg | rs2070947 |
GMAF | 0.2002 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 23388428] Association study of integrins beta 1 and beta 2 gene polymorphism and papillary thyroid cancer
ClinVar | |
---|---|
Risk | rs2070947(C;C) |
Alt | rs2070947(C;C) |
Reference | Rs2070947(T;T) |
Significance | Non-pathogenic |
Disease | Leukocyte adhesion deficiency |
Variation | info |
Gene | ITGB2 ITGB2-AS1 |
CLNDBN | Leukocyte adhesion deficiency |
Reversed | 1 |
HGVS | NC_000021.8:g.46340843A>G |
CLNSRC | |
CLNACC | RCV000285974.1, |