rs17292650
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs17292650(G;T) |
Make rs17292650(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 43338136 |
Gene | MPL |
is a | snp |
is | mentioned by |
dbSNP | rs17292650 |
dbSNP (classic) | rs17292650 |
ClinGen | rs17292650 |
ebi | rs17292650 |
HLI | rs17292650 |
Exac | rs17292650 |
Gnomad | rs17292650 |
Varsome | rs17292650 |
LitVar | rs17292650 |
Map | rs17292650 |
PheGenI | rs17292650 |
Biobank | rs17292650 |
1000 genomes | rs17292650 |
hgdp | rs17292650 |
ensembl | rs17292650 |
geneview | rs17292650 |
scholar | rs17292650 |
rs17292650 | |
pharmgkb | rs17292650 |
gwascentral | rs17292650 |
openSNP | rs17292650 |
23andMe | rs17292650 |
SNPshot | rs17292650 |
SNPdbe | rs17292650 |
MSV3d | rs17292650 |
GWAS Ctlg | rs17292650 |
GMAF | 0.01148 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs17292650(T;T) |
Alt | rs17292650(T;T) |
Reference | Rs17292650(G;G) |
Significance | Other |
Disease | Thrombocytosis not specified Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia |
Variation | info |
Gene | MPL |
CLNDBN | Thrombocytosis, benign familial microcytic not specified Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia |
Reversed | 0 |
HGVS | NC_000001.10:g.43803807G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015225.3, RCV000121535.1, RCV000359577.1, RCV000400040.1, |