rs201752283
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201752283(C;T) |
Make rs201752283(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 44900319 |
Gene | ITGB2 |
is a | snp |
is | mentioned by |
dbSNP | rs201752283 |
dbSNP (classic) | rs201752283 |
ClinGen | rs201752283 |
ebi | rs201752283 |
HLI | rs201752283 |
Exac | rs201752283 |
Gnomad | rs201752283 |
Varsome | rs201752283 |
LitVar | rs201752283 |
Map | rs201752283 |
PheGenI | rs201752283 |
Biobank | rs201752283 |
1000 genomes | rs201752283 |
hgdp | rs201752283 |
ensembl | rs201752283 |
geneview | rs201752283 |
scholar | rs201752283 |
rs201752283 | |
pharmgkb | rs201752283 |
gwascentral | rs201752283 |
openSNP | rs201752283 |
23andMe | rs201752283 |
SNPshot | rs201752283 |
SNPdbe | rs201752283 |
MSV3d | rs201752283 |
GWAS Ctlg | rs201752283 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201752283(A;A) rs201752283(T;T) |
Alt | rs201752283(A;A) rs201752283(T;T) |
Reference | Rs201752283(C;C) |
Significance | Pathogenic |
Disease | Leukocyte adhesion deficiency type 1 |
Variation | info |
Gene | ITGB2 |
CLNDBN | Leukocyte adhesion deficiency type 1 |
Reversed | 0 |
HGVS | NC_000021.8:g.46320234C>A; NC_000021.8:g.46320234C>T |
CLNSRC | ClinVar |
CLNACC | RCV000087128.1, RCV000087127.1, |