rs74602141
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs74602141(C;T) |
Make rs74602141(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44380082 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs74602141 |
dbSNP (classic) | rs74602141 |
ClinGen | rs74602141 |
ebi | rs74602141 |
HLI | rs74602141 |
Exac | rs74602141 |
Gnomad | rs74602141 |
Varsome | rs74602141 |
LitVar | rs74602141 |
Map | rs74602141 |
PheGenI | rs74602141 |
Biobank | rs74602141 |
1000 genomes | rs74602141 |
hgdp | rs74602141 |
ensembl | rs74602141 |
geneview | rs74602141 |
scholar | rs74602141 |
rs74602141 | |
pharmgkb | rs74602141 |
gwascentral | rs74602141 |
openSNP | rs74602141 |
23andMe | rs74602141 |
SNPshot | rs74602141 |
SNPdbe | rs74602141 |
MSV3d | rs74602141 |
GWAS Ctlg | rs74602141 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74602141(T;T) |
Alt | rs74602141(T;T) |
Reference | Rs74602141(C;C) |
Significance | Pathogenic |
Disease | Glanzmann's thrombasthenia |
Variation | info |
Gene | ITGA2B |
CLNDBN | Glanzmann's thrombasthenia |
Reversed | 1 |
HGVS | NC_000017.10:g.42457450G>A |
CLNSRC | |
CLNACC |