Gene: F7 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea. 21206266

2011
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Familial factor VII deficiency with foetal and neonatal fatal cerebral haemorrhage associated with homozygosis to Gly180Arg mutation. 19432927

2009
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Phenotypic and genotypic characterization of Factor VII deficiency patients from Western India. 19751712

2009
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. 18976247

2009
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT A patient homozygous for a Gly354Cys mutation in factor VII that results in severely impaired secretion of the molecule, but not complete deficiency. 14717781

2004
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Two double heterozygous mutations in the F7 gene show different manifestations. 12472587

2002
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Molecular analysis of the genotype-phenotype relationship in factor VII deficiency. 11129332

2000
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Two novel factor VII gene mutations in a Chinese family with factor VII deficiency. 11091194

2000
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Factor VII deficiency caused by a structural variant N57D of the first epidermal growth factor domain. 9414278

1998
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Two new missense mutations (P134T and A244V) in the coagulation factor VII gene. 9452082

1998
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Factor VII Morioka (FVII L-26P): a homozygous missense mutation in the signal sequence identified in a patient with factor VII deficiency. 9576180

1998
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. 8652821

1996
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Factor VII central. A novel mutation in the catalytic domain that reduces tissue factor binding, impairs activation by factor Xa, and abolishes amidolytic and coagulant activity. 8940045

1996
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. 8883260

1996
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Mutation pattern in clinically asymptomatic coagulation factor VII deficiency. 8844208

1996
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala-->Val) and X (334Ser-->Pro). 7981691

1994
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII. 8043443

1994
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII. 8242057

1993
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT A missense mutation (178Cys-->Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene. 8364544

1993
dbSNP: rs387906507
rs387906507
F7
0.810 GeneticVariation UNIPROT Purification and characterization of factor VII 304-Gln: a variant molecule with reduced activity isolated from a clinically unaffected male. 2070047

1991
dbSNP: rs121964926
rs121964926
F7
0.800 GeneticVariation UNIPROT Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea. 21206266

2011
dbSNP: rs121964927
rs121964927
F7
0.800 GeneticVariation UNIPROT Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea. 21206266

2011
dbSNP: rs121964934
rs121964934
F7
0.800 GeneticVariation UNIPROT Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea. 21206266

2011
dbSNP: rs121964936
rs121964936
F7
0.800 GeneticVariation UNIPROT Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea. 21206266

2011
dbSNP: rs200016360
rs200016360
F7
0.800 GeneticVariation UNIPROT Recurrent mutations and genotype-phenotype correlations in hereditary factor VII deficiency in Korea. 21206266

2011