Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1561673120
rs1561673120
F13A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs369187276
rs369187276
F13A1 ; MIR5683
0.010 GeneticVariation BEFREE The identified missense (Pro289Arg, Arg611His, Asp668Gly) and nonsense (Gly390X, Trp664X) mutations are causative for factor XIII deficiency. 20179087

2010
dbSNP: rs375129902
rs375129902
F13A1
0.010 GeneticVariation BEFREE The identified missense (Pro289Arg, Arg611His, Asp668Gly) and nonsense (Gly390X, Trp664X) mutations are causative for factor XIII deficiency. 20179087

2010
dbSNP: rs1173258177
rs1173258177
F13A1
0.010 GeneticVariation BEFREE Molecular analysis performed on a Canadian family with congenital factor XIII deficiency revealed a homozygous missense mutation (Leu667Pro) in exon 14 of the A subunit gene in three affected siblings. 8547093

1995