RS12731981 MPL

Health Risk Chr 1:43338668 snv missense variant

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What This Variant Does

"CLNSIG=3

Associated Conditions

Congenital amegakaryocytic thrombocytopenia

Essential thrombocythemia

Congenital amegakaryocytic thrombocytopenia 1

Congenital amegakaryocytic thrombocytopenia

Essential thrombocythemia

Congenital amegakaryocytic thrombocytopenia 1

GWAS Studies (3)

Trait	Risk Allele	OR / Beta	P-value	Study
Thrombopoietin Receptor levels	A	OR: 0.31	6E-19	PubMed
Plateletcrit	A	β: 0.052	9E-17	PubMed
Platelet count	A	β: 0.045	5E-13	PubMed

Population Frequencies

gnomAD ALL

97%

1kG AFR

99.8%

1kG ALL

1.9%

1kG AMR

2.9%

1kG EAS

100%

1kG EUR

95%

1kG SAS

2.4%

Other Variants in MPL