rs879255508
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGGCCTGCGCCCC;AGGCCTGCGCCCC) | 0 | common in clinvar |
Make rs879255508(-;-) |
Make rs879255508(-;AGGCCTGCGCCCC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 44385706 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs879255508 |
dbSNP (classic) | rs879255508 |
ClinGen | rs879255508 |
ebi | rs879255508 |
HLI | rs879255508 |
Exac | rs879255508 |
Gnomad | rs879255508 |
Varsome | rs879255508 |
LitVar | rs879255508 |
Map | rs879255508 |
PheGenI | rs879255508 |
Biobank | rs879255508 |
1000 genomes | rs879255508 |
hgdp | rs879255508 |
ensembl | rs879255508 |
geneview | rs879255508 |
scholar | rs879255508 |
rs879255508 | |
pharmgkb | rs879255508 |
gwascentral | rs879255508 |
openSNP | rs879255508 |
23andMe | rs879255508 |
SNPshot | rs879255508 |
SNPdbe | rs879255508 |
MSV3d | rs879255508 |
GWAS Ctlg | rs879255508 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255508(-;-) |
Alt | rs879255508(-;-) |
Reference | Rs879255508(AGGCCTGCGCCCC;AGGCCTGCGCCCC) |
Significance | Pathogenic |
Disease | Glanzmann thrombasthenia |
Variation | info |
Gene | ITGA2B |
CLNDBN | Glanzmann thrombasthenia |
Reversed | 1 |
HGVS | NC_000017.10:g.42463074_42463086delGGGGCGCAGGCCT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003023.3, |