rs797045927
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs797045927(A;A) |
Make rs797045927(A;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 21 |
Position | 34859530 |
Gene | LOC102724584, RUNX1 |
is a | snp |
is | mentioned by |
dbSNP | rs797045927 |
dbSNP (classic) | rs797045927 |
ClinGen | rs797045927 |
ebi | rs797045927 |
HLI | rs797045927 |
Exac | rs797045927 |
Gnomad | rs797045927 |
Varsome | rs797045927 |
LitVar | rs797045927 |
Map | rs797045927 |
PheGenI | rs797045927 |
Biobank | rs797045927 |
1000 genomes | rs797045927 |
hgdp | rs797045927 |
ensembl | rs797045927 |
geneview | rs797045927 |
scholar | rs797045927 |
rs797045927 | |
pharmgkb | rs797045927 |
gwascentral | rs797045927 |
openSNP | rs797045927 |
23andMe | rs797045927 |
SNPshot | rs797045927 |
SNPdbe | rs797045927 |
MSV3d | rs797045927 |
GWAS Ctlg | rs797045927 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797045927(A;A) |
Alt | rs797045927(A;A) |
Reference | Rs797045927(T;T) |
Significance | Probable-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.36231827A>T |
CLNSRC | |
CLNACC | RCV000192486.1, |