rs74664206
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs74664206(C;C) |
Make rs74664206(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44374352 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs74664206 |
dbSNP (classic) | rs74664206 |
ClinGen | rs74664206 |
ebi | rs74664206 |
HLI | rs74664206 |
Exac | rs74664206 |
Gnomad | rs74664206 |
Varsome | rs74664206 |
LitVar | rs74664206 |
Map | rs74664206 |
PheGenI | rs74664206 |
Biobank | rs74664206 |
1000 genomes | rs74664206 |
hgdp | rs74664206 |
ensembl | rs74664206 |
geneview | rs74664206 |
scholar | rs74664206 |
rs74664206 | |
pharmgkb | rs74664206 |
gwascentral | rs74664206 |
openSNP | rs74664206 |
23andMe | rs74664206 |
SNPshot | rs74664206 |
SNPdbe | rs74664206 |
MSV3d | rs74664206 |
GWAS Ctlg | rs74664206 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74664206(C;C) |
Alt | rs74664206(C;C) |
Reference | Rs74664206(T;T) |
Significance | Pathogenic |
Disease | Glanzmann's thrombasthenia |
Variation | info |
Gene | ITGA2B |
CLNDBN | Glanzmann's thrombasthenia |
Reversed | 1 |
HGVS | NC_000017.10:g.42451720A>G |
CLNSRC | |
CLNACC |
[PMID 9215749] Hematologically important mutations: Glanzmann thrombasthenia.