rs782158761, F8

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hemophilia A
CUI: C0019069
Disease: Hemophilia A
0.010 GeneticVariation BEFREE A hemizygous c.602G > A variant in the F8 gene, leading to a single amino acid substitution at codon 201 from glycine to glutamic acid (p.G201E) within the factor VIII (FVIII) A1 domain, was identified in the HA family. 30839399 2019
Abnormality of coagulation
CUI: C1846821
Disease: Abnormality of coagulation
0.700 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019