F13A1, coagulation factor XIII A chain, 2162

N. diseases: 117; N. variants: 72
Disease: Factor XIII deficiency disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369187276
rs369187276
Entrez Id: 2162;100847034
Gene Symbol: F13A1;MIR5683
F13A1;MIR5683
CUI: C4316906
Disease:
Factor XIII deficiency disease 		0.010 GeneticVariation BEFREE The identified missense (Pro289Arg, Arg611His, Asp668Gly) and nonsense (Gly390X, Trp664X) mutations are causative for factor XIII deficiency. 20179087 2010