rs79775494
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs79775494(A;T) |
Make rs79775494(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 47287128 |
Gene | ITGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs79775494 |
dbSNP (classic) | rs79775494 |
ClinGen | rs79775494 |
ebi | rs79775494 |
HLI | rs79775494 |
Exac | rs79775494 |
Gnomad | rs79775494 |
Varsome | rs79775494 |
LitVar | rs79775494 |
Map | rs79775494 |
PheGenI | rs79775494 |
Biobank | rs79775494 |
1000 genomes | rs79775494 |
hgdp | rs79775494 |
ensembl | rs79775494 |
geneview | rs79775494 |
scholar | rs79775494 |
rs79775494 | |
pharmgkb | rs79775494 |
gwascentral | rs79775494 |
openSNP | rs79775494 |
23andMe | rs79775494 |
SNPshot | rs79775494 |
SNPdbe | rs79775494 |
MSV3d | rs79775494 |
GWAS Ctlg | rs79775494 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs79775494(T;T) |
Alt | rs79775494(T;T) |
Reference | Rs79775494(A;A) |
Significance | Pathogenic |
Disease | Glanzmann thrombasthenia |
Variation | info |
Gene | ITGB3 |
CLNDBN | Glanzmann thrombasthenia |
Reversed | 0 |
HGVS | NC_000017.10:g.45364494A>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014536.22, |