rs79657230
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs79657230(C;T) |
Make rs79657230(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 44374673 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs79657230 |
dbSNP (classic) | rs79657230 |
ClinGen | rs79657230 |
ebi | rs79657230 |
HLI | rs79657230 |
Exac | rs79657230 |
Gnomad | rs79657230 |
Varsome | rs79657230 |
LitVar | rs79657230 |
Map | rs79657230 |
PheGenI | rs79657230 |
Biobank | rs79657230 |
1000 genomes | rs79657230 |
hgdp | rs79657230 |
ensembl | rs79657230 |
geneview | rs79657230 |
scholar | rs79657230 |
rs79657230 | |
pharmgkb | rs79657230 |
gwascentral | rs79657230 |
openSNP | rs79657230 |
23andMe | rs79657230 |
SNPshot | rs79657230 |
SNPdbe | rs79657230 |
MSV3d | rs79657230 |
GWAS Ctlg | rs79657230 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79657230(T;T) |
Alt | rs79657230(T;T) |
Reference | Rs79657230(C;C) |
Significance | Pathogenic |
Disease | Glanzmann's thrombasthenia |
Variation | info |
Gene | ITGA2B |
CLNDBN | Glanzmann's thrombasthenia |
Reversed | 1 |
HGVS | NC_000017.10:g.42452041G>A |
CLNSRC | |
CLNACC |