rs74554539
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs74554539(A;A) |
Make rs74554539(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 47283379 |
Gene | ITGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs74554539 |
dbSNP (classic) | rs74554539 |
ClinGen | rs74554539 |
ebi | rs74554539 |
HLI | rs74554539 |
Exac | rs74554539 |
Gnomad | rs74554539 |
Varsome | rs74554539 |
LitVar | rs74554539 |
Map | rs74554539 |
PheGenI | rs74554539 |
Biobank | rs74554539 |
1000 genomes | rs74554539 |
hgdp | rs74554539 |
ensembl | rs74554539 |
geneview | rs74554539 |
scholar | rs74554539 |
rs74554539 | |
pharmgkb | rs74554539 |
gwascentral | rs74554539 |
openSNP | rs74554539 |
23andMe | rs74554539 |
SNPshot | rs74554539 |
SNPdbe | rs74554539 |
MSV3d | rs74554539 |
GWAS Ctlg | rs74554539 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74554539(A;A) |
Alt | rs74554539(A;A) |
Reference | Rs74554539(G;G) |
Significance | Pathogenic |
Disease | Glanzmann's thrombasthenia |
Variation | info |
Gene | ITGB3 |
CLNDBN | Glanzmann's thrombasthenia |
Reversed | 0 |
HGVS | NC_000017.10:g.45360745G>A |
CLNSRC | |
CLNACC |