rs12731981
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in complete genomics |
Make rs12731981(A;A) |
Make rs12731981(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 43338669 |
Gene | MPL |
is a | snp |
is | mentioned by |
dbSNP | rs12731981 |
dbSNP (classic) | rs12731981 |
ClinGen | rs12731981 |
ebi | rs12731981 |
HLI | rs12731981 |
Exac | rs12731981 |
Gnomad | rs12731981 |
Varsome | rs12731981 |
LitVar | rs12731981 |
Map | rs12731981 |
PheGenI | rs12731981 |
Biobank | rs12731981 |
1000 genomes | rs12731981 |
hgdp | rs12731981 |
ensembl | rs12731981 |
geneview | rs12731981 |
scholar | rs12731981 |
rs12731981 | |
pharmgkb | rs12731981 |
gwascentral | rs12731981 |
openSNP | rs12731981 |
23andMe | rs12731981 |
SNPshot | rs12731981 |
SNPdbe | rs12731981 |
MSV3d | rs12731981 |
GWAS Ctlg | rs12731981 |
GMAF | 0.0225 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs12731981(A;A) |
Alt | rs12731981(A;A) |
Reference | Rs12731981(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia |
Variation | info |
Gene | MPL |
CLNDBN | not specified Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia |
Reversed | 0 |
HGVS | NC_000001.10:g.43804340G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000121540.2, RCV000371334.1, RCV000467700.1, |