rs587777211
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587777211(C;T) |
Make rs587777211(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 132990916 |
Gene | GFI1B |
is a | snp |
is | mentioned by |
dbSNP | rs587777211 |
dbSNP (classic) | rs587777211 |
ClinGen | rs587777211 |
ebi | rs587777211 |
HLI | rs587777211 |
Exac | rs587777211 |
Gnomad | rs587777211 |
Varsome | rs587777211 |
LitVar | rs587777211 |
Map | rs587777211 |
PheGenI | rs587777211 |
Biobank | rs587777211 |
1000 genomes | rs587777211 |
hgdp | rs587777211 |
ensembl | rs587777211 |
geneview | rs587777211 |
scholar | rs587777211 |
rs587777211 | |
pharmgkb | rs587777211 |
gwascentral | rs587777211 |
openSNP | rs587777211 |
23andMe | rs587777211 |
SNPshot | rs587777211 |
SNPdbe | rs587777211 |
MSV3d | rs587777211 |
GWAS Ctlg | rs587777211 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587777211(T;T) |
Alt | rs587777211(T;T) |
Reference | Rs587777211(C;C) |
Significance | Pathogenic |
Disease | Platelet-type bleeding disorder 17 |
Variation | info |
Gene | GFI1B |
CLNDBN | Platelet-type bleeding disorder 17 |
Reversed | 0 |
HGVS | NC_000009.11:g.135866303C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000088664.4, |