rs79560904
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs79560904(A;A) |
Make rs79560904(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 47286385 |
Gene | ITGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs79560904 |
dbSNP (classic) | rs79560904 |
ClinGen | rs79560904 |
ebi | rs79560904 |
HLI | rs79560904 |
Exac | rs79560904 |
Gnomad | rs79560904 |
Varsome | rs79560904 |
LitVar | rs79560904 |
Map | rs79560904 |
PheGenI | rs79560904 |
Biobank | rs79560904 |
1000 genomes | rs79560904 |
hgdp | rs79560904 |
ensembl | rs79560904 |
geneview | rs79560904 |
scholar | rs79560904 |
rs79560904 | |
pharmgkb | rs79560904 |
gwascentral | rs79560904 |
openSNP | rs79560904 |
23andMe | rs79560904 |
SNPshot | rs79560904 |
SNPdbe | rs79560904 |
MSV3d | rs79560904 |
GWAS Ctlg | rs79560904 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79560904(A;A) |
Alt | rs79560904(A;A) |
Reference | Rs79560904(G;G) |
Significance | Pathogenic |
Disease | Glanzmann thrombasthenia |
Variation | info |
Gene | ITGB3 |
CLNDBN | Glanzmann thrombasthenia |
Reversed | 0 |
HGVS | NC_000017.10:g.45363751G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014537.27, |