rs121913614
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913614(A;A) |
Make rs121913614(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 43349308 |
Gene | MPL |
is a | snp |
is | mentioned by |
dbSNP | rs121913614 |
dbSNP (classic) | rs121913614 |
ClinGen | rs121913614 |
ebi | rs121913614 |
HLI | rs121913614 |
Exac | rs121913614 |
Gnomad | rs121913614 |
Varsome | rs121913614 |
LitVar | rs121913614 |
Map | rs121913614 |
PheGenI | rs121913614 |
Biobank | rs121913614 |
1000 genomes | rs121913614 |
hgdp | rs121913614 |
ensembl | rs121913614 |
geneview | rs121913614 |
scholar | rs121913614 |
rs121913614 | |
pharmgkb | rs121913614 |
gwascentral | rs121913614 |
openSNP | rs121913614 |
23andMe | rs121913614 |
SNPshot | rs121913614 |
SNPdbe | rs121913614 |
MSV3d | rs121913614 |
GWAS Ctlg | rs121913614 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913614(A;A) |
Alt | rs121913614(A;A) |
Reference | Rs121913614(G;G) |
Significance | Pathogenic |
Disease | Thrombocytosis Myeloproliferative Neoplasm Myelofibrosis Essential thrombocythemia |
Variation | info |
Gene | MPL |
CLNDBN | Thrombocytosis, benign familial microcytic Myeloproliferative Neoplasm Myelofibrosis Essential thrombocythemia |
Reversed | 0 |
HGVS | NC_000001.10:g.43814979G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000015226.26, RCV000418818.1, RCV000425381.1, RCV000436519.1, |