rs879255514
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs879255514(A;A) |
Make rs879255514(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 17 |
Position | 44372407 |
Gene | ITGA2B |
is a | snp |
is | mentioned by |
dbSNP | rs879255514 |
dbSNP (classic) | rs879255514 |
ClinGen | rs879255514 |
ebi | rs879255514 |
HLI | rs879255514 |
Exac | rs879255514 |
Gnomad | rs879255514 |
Varsome | rs879255514 |
LitVar | rs879255514 |
Map | rs879255514 |
PheGenI | rs879255514 |
Biobank | rs879255514 |
1000 genomes | rs879255514 |
hgdp | rs879255514 |
ensembl | rs879255514 |
geneview | rs879255514 |
scholar | rs879255514 |
rs879255514 | |
pharmgkb | rs879255514 |
gwascentral | rs879255514 |
openSNP | rs879255514 |
23andMe | rs879255514 |
SNPshot | rs879255514 |
SNPdbe | rs879255514 |
MSV3d | rs879255514 |
GWAS Ctlg | rs879255514 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879255514(A;A) |
Alt | rs879255514(A;A) |
Reference | Rs879255514(G;G) |
Significance | Pathogenic |
Disease | Platelet-type bleeding disorder 16 |
Variation | info |
Gene | ITGA2B |
CLNDBN | Platelet-type bleeding disorder 16 |
Reversed | 1 |
HGVS | NC_000017.10:g.42449775C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043485.4, |