rs75354240
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs75354240(A;G) |
Make rs75354240(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 47283352 |
Gene | ITGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs75354240 |
dbSNP (classic) | rs75354240 |
ClinGen | rs75354240 |
ebi | rs75354240 |
HLI | rs75354240 |
Exac | rs75354240 |
Gnomad | rs75354240 |
Varsome | rs75354240 |
LitVar | rs75354240 |
Map | rs75354240 |
PheGenI | rs75354240 |
Biobank | rs75354240 |
1000 genomes | rs75354240 |
hgdp | rs75354240 |
ensembl | rs75354240 |
geneview | rs75354240 |
scholar | rs75354240 |
rs75354240 | |
pharmgkb | rs75354240 |
gwascentral | rs75354240 |
openSNP | rs75354240 |
23andMe | rs75354240 |
SNPshot | rs75354240 |
SNPdbe | rs75354240 |
MSV3d | rs75354240 |
GWAS Ctlg | rs75354240 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs75354240(G;G) |
Alt | rs75354240(G;G) |
Reference | Rs75354240(A;A) |
Significance | Pathogenic |
Disease | Glanzmann's thrombasthenia |
Variation | info |
Gene | ITGB3 |
CLNDBN | Glanzmann's thrombasthenia |
Reversed | 0 |
HGVS | NC_000017.10:g.45360718A>G |
CLNSRC | |
CLNACC |