rs397989794
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(D;D) | 0 | common genotype |
Make rs397989794(-;C) |
Make rs397989794(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 132990937 |
Gene | GFI1B |
is a | snp |
is | mentioned by |
dbSNP | rs397989794 |
dbSNP (classic) | rs397989794 |
ClinGen | rs397989794 |
ebi | rs397989794 |
HLI | rs397989794 |
Exac | rs397989794 |
Gnomad | rs397989794 |
Varsome | rs397989794 |
LitVar | rs397989794 |
Map | rs397989794 |
PheGenI | rs397989794 |
Biobank | rs397989794 |
1000 genomes | rs397989794 |
hgdp | rs397989794 |
ensembl | rs397989794 |
geneview | rs397989794 |
scholar | rs397989794 |
rs397989794 | |
pharmgkb | rs397989794 |
gwascentral | rs397989794 |
openSNP | rs397989794 |
23andMe | rs397989794 |
SNPshot | rs397989794 |
SNPdbe | rs397989794 |
MSV3d | rs397989794 |
GWAS Ctlg | rs397989794 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397989794(C;C) |
Alt | rs397989794(C;C) |
Reference | Rs397989794(-;-) |
Significance | Pathogenic |
Disease | not provided Platelet-type bleeding disorder 17 |
Variation | info |
Gene | GFI1B |
CLNDBN | not provided Platelet-type bleeding disorder 17 |
Reversed | 0 |
HGVS | NC_000009.11:g.135866324dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074460.1, RCV000088665.3, |