rs587776811
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GCTGCGGT;GCTGCGGT) | 0 | common in clinvar |
Make rs587776811(-;-) |
Make rs587776811(-;GCTGCGGT) |
Reference | GRCh38 38.1/142 |
Chromosome | 21 |
Position | 34880616 |
Gene | LOC102724584, RUNX1 |
is a | snp |
is | mentioned by |
dbSNP | rs587776811 |
dbSNP (classic) | rs587776811 |
ClinGen | rs587776811 |
ebi | rs587776811 |
HLI | rs587776811 |
Exac | rs587776811 |
Gnomad | rs587776811 |
Varsome | rs587776811 |
LitVar | rs587776811 |
Map | rs587776811 |
PheGenI | rs587776811 |
Biobank | rs587776811 |
1000 genomes | rs587776811 |
hgdp | rs587776811 |
ensembl | rs587776811 |
geneview | rs587776811 |
scholar | rs587776811 |
rs587776811 | |
pharmgkb | rs587776811 |
gwascentral | rs587776811 |
openSNP | rs587776811 |
23andMe | rs587776811 |
SNPshot | rs587776811 |
SNPdbe | rs587776811 |
MSV3d | rs587776811 |
GWAS Ctlg | rs587776811 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776811(-;-) |
Alt | rs587776811(-;-) |
Reference | Rs587776811(GCTGCGGT;GCTGCGGT) |
Significance | Pathogenic |
Disease | Familial platelet disorder with associated myeloid malignancy |
Variation | info |
Gene | RUNX1 |
CLNDBN | Familial platelet disorder with associated myeloid malignancy |
Reversed | 0 |
HGVS | NC_000021.8:g.36252913_36252920delGCTGCGGT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015557.28, |