Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
T 0.870 CausalMutation CLINVAR
dbSNP: rs121913616
rs121913616
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
AA 0.810 CausalMutation CLINVAR
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3275998
Disease:
THROMBOCYTHEMIA 2
A 0.800 CausalMutation CLINVAR
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 0.800 GeneticVariation CLINVAR
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.800 GeneticVariation UNIPROT
dbSNP: rs28928908
rs28928908
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.800 GeneticVariation UNIPROT
dbSNP: rs28928908
rs28928908
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
A 0.800 CausalMutation CLINVAR
dbSNP: rs1196161699
rs1196161699
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.710 GeneticVariation UNIPROT
dbSNP: rs1006158872
rs1006158872
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 GeneticVariation UNIPROT
dbSNP: rs121913610
rs121913610
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913611
rs121913611
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913612
rs121913612
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913613
rs121913613
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
A 0.700 CausalMutation CLINVAR
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3277190
Disease:
THROMBOCYTHEMIA 2, SOMATIC
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1343123940
rs1343123940
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0040028
Disease:
Thrombocythemia, Essential
A 0.700 CausalMutation CLINVAR
dbSNP: rs1343123940
rs1343123940
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1343123940
rs1343123940
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
A 0.700 CausalMutation CLINVAR
dbSNP: rs146249964
rs146249964
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3275998
Disease:
THROMBOCYTHEMIA 2
A 0.700 CausalMutation CLINVAR
dbSNP: rs146249964
rs146249964
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0001815
Disease:
Primary Myelofibrosis
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553128241
rs1553128241
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs750046020
rs750046020
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3275998
Disease:
THROMBOCYTHEMIA 2
0.700 GeneticVariation UNIPROT
dbSNP: rs758428763
rs758428763
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 GeneticVariation UNIPROT
dbSNP: rs764904424
rs764904424
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 GeneticVariation UNIPROT
dbSNP: rs770457041
rs770457041
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
G 0.700 CausalMutation CLINVAR