F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918477
rs121918477
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0272317
Disease:
Hereditary factor II deficiency disease 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918478
rs121918478
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0272317
Disease:
Hereditary factor II deficiency disease 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918479
rs121918479
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0272317
Disease:
Hereditary factor II deficiency disease 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918480
rs121918480
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0272317
Disease:
Hereditary factor II deficiency disease 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918481
rs121918481
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0272317
Disease:
Hereditary factor II deficiency disease 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121918482
rs121918482
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C4016343
Disease:
DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121918483
rs121918483
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0272317
Disease:
Hereditary factor II deficiency disease 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121918484
rs121918484
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0272317
Disease:
Hereditary factor II deficiency disease 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121918485
rs121918485
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0272317
Disease:
Hereditary factor II deficiency disease 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121918486
rs121918486
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0272317
Disease:
Hereditary factor II deficiency disease 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C1856857
Disease:
STROKE, ISCHEMIC, SUSCEPTIBILITY TO 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C3280672
Disease:
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1799963
rs1799963
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0272317
Disease:
Hereditary factor II deficiency disease 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs387906522
rs387906522
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs387907201
rs387907201
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C3160733
Disease:
THROMBOPHILIA DUE TO THROMBIN DEFECT 		T 0.700 CausalMutation CLINVAR
dbSNP: rs62623459
rs62623459
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C3890031
Disease:
prothrombin type 3 phenotype 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121918477
rs121918477
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Determination of the amino acid substitution in human prothrombin type 3 (157 Glu leads to Lys) and the localization of a third thrombin cleavage site. 6405779 1983
dbSNP: rs121918478
rs121918478
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Determination of the amino acid substitution in human prothrombin type 3 (157 Glu leads to Lys) and the localization of a third thrombin cleavage site. 6405779 1983
dbSNP: rs121918479
rs121918479
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Determination of the amino acid substitution in human prothrombin type 3 (157 Glu leads to Lys) and the localization of a third thrombin cleavage site. 6405779 1983
dbSNP: rs121918480
rs121918480
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Determination of the amino acid substitution in human prothrombin type 3 (157 Glu leads to Lys) and the localization of a third thrombin cleavage site. 6405779 1983
dbSNP: rs121918481
rs121918481
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Determination of the amino acid substitution in human prothrombin type 3 (157 Glu leads to Lys) and the localization of a third thrombin cleavage site. 6405779 1983
dbSNP: rs121918482
rs121918482
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Determination of the amino acid substitution in human prothrombin type 3 (157 Glu leads to Lys) and the localization of a third thrombin cleavage site. 6405779 1983
dbSNP: rs62623459
rs62623459
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Determination of the amino acid substitution in human prothrombin type 3 (157 Glu leads to Lys) and the localization of a third thrombin cleavage site. 6405779 1983
dbSNP: rs754231232
rs754231232
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Determination of the amino acid substitution in human prothrombin type 3 (157 Glu leads to Lys) and the localization of a third thrombin cleavage site. 6405779 1983
dbSNP: rs121918477
rs121918477
Entrez Id: 2147
Gene Symbol: F2
F2
CUI: C0020640
Disease:
Inherited Factor II deficiency 		0.700 GeneticVariation UNIPROT Molecular defect of prothrombin Barcelona. Substitution of cysteine for arginine at residue 273. 3771562 1986