rs780017389
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTCTAC;GTCTAC) | 0 | common in clinvar |
Make rs780017389(-;-) |
Make rs780017389(-;GTCTAC) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 44380901 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs780017389 |
dbSNP (classic) | rs780017389 |
ClinGen | rs780017389 |
ebi | rs780017389 |
HLI | rs780017389 |
Exac | rs780017389 |
Gnomad | rs780017389 |
Varsome | rs780017389 |
LitVar | rs780017389 |
Map | rs780017389 |
PheGenI | rs780017389 |
Biobank | rs780017389 |
1000 genomes | rs780017389 |
hgdp | rs780017389 |
ensembl | rs780017389 |
geneview | rs780017389 |
scholar | rs780017389 |
rs780017389 | |
pharmgkb | rs780017389 |
gwascentral | rs780017389 |
openSNP | rs780017389 |
23andMe | rs780017389 |
SNPshot | rs780017389 |
SNPdbe | rs780017389 |
MSV3d | rs780017389 |
GWAS Ctlg | rs780017389 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780017389(-;-) |
Alt | rs780017389(-;-) |
Reference | Rs780017389(GTCTAC;GTCTAC) |
Significance | Pathogenic |
Disease | Glanzmann thrombasthenia |
Variation | info |
Gene | ITGA2B |
CLNDBN | Glanzmann thrombasthenia |
Reversed | 0 |
HGVS | NC_000017.10:g.42458269_42458274delGTCTAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000003032.3, |