rs78321762
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs78321762(-;A) |
Make rs78321762(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44384112 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs78321762 |
dbSNP (classic) | rs78321762 |
ClinGen | rs78321762 |
ebi | rs78321762 |
HLI | rs78321762 |
Exac | rs78321762 |
Gnomad | rs78321762 |
Varsome | rs78321762 |
LitVar | rs78321762 |
Map | rs78321762 |
PheGenI | rs78321762 |
Biobank | rs78321762 |
1000 genomes | rs78321762 |
hgdp | rs78321762 |
ensembl | rs78321762 |
geneview | rs78321762 |
scholar | rs78321762 |
rs78321762 | |
pharmgkb | rs78321762 |
gwascentral | rs78321762 |
openSNP | rs78321762 |
23andMe | rs78321762 |
SNPshot | rs78321762 |
SNPdbe | rs78321762 |
MSV3d | rs78321762 |
GWAS Ctlg | rs78321762 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs78321762(A;A) |
Alt | rs78321762(A;A) |
Reference | Rs78321762(;) |
Significance | Pathogenic |
Disease | Glanzmann's thrombasthenia |
Variation | info |
Gene | ITGA2B |
CLNDBN | Glanzmann's thrombasthenia |
Reversed | 1 |
HGVS | NC_000017.10:g.42461480_42461481insT |
CLNSRC | |
CLNACC |