rs74315450
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs74315450(A;A) |
Make rs74315450(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 34859485 |
Gene | LOC102724584, RUNX1 |
is a | snp |
is | mentioned by |
dbSNP | rs74315450 |
dbSNP (classic) | rs74315450 |
ClinGen | rs74315450 |
ebi | rs74315450 |
HLI | rs74315450 |
Exac | rs74315450 |
Gnomad | rs74315450 |
Varsome | rs74315450 |
LitVar | rs74315450 |
Map | rs74315450 |
PheGenI | rs74315450 |
Biobank | rs74315450 |
1000 genomes | rs74315450 |
hgdp | rs74315450 |
ensembl | rs74315450 |
geneview | rs74315450 |
scholar | rs74315450 |
rs74315450 | |
pharmgkb | rs74315450 |
gwascentral | rs74315450 |
openSNP | rs74315450 |
23andMe | rs74315450 |
SNPshot | rs74315450 |
SNPdbe | rs74315450 |
MSV3d | rs74315450 |
GWAS Ctlg | rs74315450 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315450(A;A) |
Alt | rs74315450(A;A) |
Reference | Rs74315450(G;G) |
Significance | Pathogenic |
Disease | Familial platelet disorder with associated myeloid malignancy |
Variation | info |
Gene | RUNX1 |
CLNDBN | Familial platelet disorder with associated myeloid malignancy |
Reversed | 1 |
HGVS | NC_000021.8:g.36231782C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015550.25, |