rs398122373
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs398122373(C;C) |
Make rs398122373(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 47302841 |
Gene | ITGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs398122373 |
dbSNP (classic) | rs398122373 |
ClinGen | rs398122373 |
ebi | rs398122373 |
HLI | rs398122373 |
Exac | rs398122373 |
Gnomad | rs398122373 |
Varsome | rs398122373 |
LitVar | rs398122373 |
Map | rs398122373 |
PheGenI | rs398122373 |
Biobank | rs398122373 |
1000 genomes | rs398122373 |
hgdp | rs398122373 |
ensembl | rs398122373 |
geneview | rs398122373 |
scholar | rs398122373 |
rs398122373 | |
pharmgkb | rs398122373 |
gwascentral | rs398122373 |
openSNP | rs398122373 |
23andMe | rs398122373 |
SNPshot | rs398122373 |
SNPdbe | rs398122373 |
MSV3d | rs398122373 |
GWAS Ctlg | rs398122373 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122373(C;C) |
Alt | rs398122373(C;C) |
Reference | Rs398122373(G;G) |
Significance | Pathogenic |
Disease | Platelet-type bleeding disorder 16 |
Variation | info |
Gene | ITGB3 |
CLNDBN | Platelet-type bleeding disorder 16 |
Reversed | 0 |
HGVS | NC_000017.10:g.45380207G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000043481.27, |