rs74857210
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs74857210(A;A) |
Make rs74857210(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44380283 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs74857210 |
dbSNP (classic) | rs74857210 |
ClinGen | rs74857210 |
ebi | rs74857210 |
HLI | rs74857210 |
Exac | rs74857210 |
Gnomad | rs74857210 |
Varsome | rs74857210 |
LitVar | rs74857210 |
Map | rs74857210 |
PheGenI | rs74857210 |
Biobank | rs74857210 |
1000 genomes | rs74857210 |
hgdp | rs74857210 |
ensembl | rs74857210 |
geneview | rs74857210 |
scholar | rs74857210 |
rs74857210 | |
pharmgkb | rs74857210 |
gwascentral | rs74857210 |
openSNP | rs74857210 |
23andMe | rs74857210 |
SNPshot | rs74857210 |
SNPdbe | rs74857210 |
MSV3d | rs74857210 |
GWAS Ctlg | rs74857210 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74857210(A;A) rs74857210(C;C) |
Alt | rs74857210(A;A) rs74857210(C;C) |
Reference | Rs74857210(T;T) |
Significance | Pathogenic |
Disease | Glanzmann's thrombasthenia |
Variation | info |
Gene | ITGA2B |
CLNDBN | Glanzmann's thrombasthenia |
Reversed | 1 |
HGVS | NC_000017.10:g.42457651A>T |
CLNSRC | |
CLNACC |