rs763330792
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs763330792(G;T) |
Make rs763330792(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 44375719 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs763330792 |
dbSNP (classic) | rs763330792 |
ClinGen | rs763330792 |
ebi | rs763330792 |
HLI | rs763330792 |
Exac | rs763330792 |
Gnomad | rs763330792 |
Varsome | rs763330792 |
LitVar | rs763330792 |
Map | rs763330792 |
PheGenI | rs763330792 |
Biobank | rs763330792 |
1000 genomes | rs763330792 |
hgdp | rs763330792 |
ensembl | rs763330792 |
geneview | rs763330792 |
scholar | rs763330792 |
rs763330792 | |
pharmgkb | rs763330792 |
gwascentral | rs763330792 |
openSNP | rs763330792 |
23andMe | rs763330792 |
SNPshot | rs763330792 |
SNPdbe | rs763330792 |
MSV3d | rs763330792 |
GWAS Ctlg | rs763330792 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs763330792(C;C) rs763330792(T;T) |
Alt | rs763330792(C;C) rs763330792(T;T) |
Reference | Rs763330792(G;G) |
Significance | Pathogenic |
Disease | Glanzmann thrombasthenia |
Variation | info |
Gene | ITGA2B |
CLNDBN | Glanzmann thrombasthenia |
Reversed | 0 |
HGVS | NC_000017.10:g.42453087G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003027.2, |