rs5917
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | None | |
(A;G) | None | |
(G;G) | 0 | common |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 47284587 |
Gene | ITGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs5917 |
dbSNP (classic) | rs5917 |
ClinGen | rs5917 |
ebi | rs5917 |
HLI | rs5917 |
Exac | rs5917 |
Gnomad | rs5917 |
Varsome | rs5917 |
LitVar | rs5917 |
Map | rs5917 |
PheGenI | rs5917 |
Biobank | rs5917 |
1000 genomes | rs5917 |
hgdp | rs5917 |
ensembl | rs5917 |
geneview | rs5917 |
scholar | rs5917 |
rs5917 | |
pharmgkb | rs5917 |
gwascentral | rs5917 |
openSNP | rs5917 |
23andMe | rs5917 |
SNPshot | rs5917 |
SNPdbe | rs5917 |
MSV3d | rs5917 |
GWAS Ctlg | rs5917 |
GMAF | 0.003673 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs5917(A;A) |
Alt | Rs5917(A;A) |
Reference | Rs5917(G;G) |
Significance | Pathogenic |
Disease | PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM Thrombocytopenia Posttransfusion purpura |
Variation | info |
Gene | ITGB3 |
CLNDBN | PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM Thrombocytopenia, neonatal alloimmune Posttransfusion purpura |
Reversed | 0 |
HGVS | NC_000017.10:g.45361953G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014516.2, RCV000014517.25, RCV000014518.25, |