F13A1, coagulation factor XIII A chain, 2162

N. diseases: 117; N. variants: 72
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913064
rs121913064
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.800 GeneticVariation UNIPROT Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action. 27363989 2016
dbSNP: rs121913064
rs121913064
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.800 GeneticVariation UNIPROT Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function. 24889649 2014
dbSNP: rs121913064
rs121913064
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.800 GeneticVariation UNIPROT Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations. 24329762 2014
dbSNP: rs121913064
rs121913064
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.800 GeneticVariation UNIPROT Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines. 24286209 2014
dbSNP: rs121913064
rs121913064
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.800 GeneticVariation UNIPROT Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function. 20179087 2010
dbSNP: rs121913064
rs121913064
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.800 GeneticVariation UNIPROT Identification of a point mutation in factor XIII A subunit deficiency. 1353995 1992
dbSNP: rs121913064
rs121913064
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121913072
rs121913072
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		T 0.700 CausalMutation CLINVAR Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2. 28520207 2017
dbSNP: rs138754417
rs138754417
Entrez Id: 2162;100847034
Gene Symbol: F13A1;MIR5683
F13A1;MIR5683
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action. 27363989 2016
dbSNP: rs1396702202
rs1396702202
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action. 27363989 2016
dbSNP: rs367679357
rs367679357
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action. 27363989 2016
dbSNP: rs369187276
rs369187276
Entrez Id: 2162;100847034
Gene Symbol: F13A1;MIR5683
F13A1;MIR5683
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action. 27363989 2016
dbSNP: rs375129902
rs375129902
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action. 27363989 2016
dbSNP: rs6927354
rs6927354
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C0002395
Disease:
Alzheimer's Disease 		T 0.700 GeneticVariation GWASCAT Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3. 26830138 2016
dbSNP: rs757172838
rs757172838
Entrez Id: 2162;100847034
Gene Symbol: F13A1;MIR5683
F13A1;MIR5683
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action. 27363989 2016
dbSNP: rs778206273
rs778206273
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action. 27363989 2016
dbSNP: rs121913072
rs121913072
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		T 0.700 CausalMutation CLINVAR Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations. 24118344 2014
dbSNP: rs138754417
rs138754417
Entrez Id: 2162;100847034
Gene Symbol: F13A1;MIR5683
F13A1;MIR5683
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines. 24286209 2014
dbSNP: rs138754417
rs138754417
Entrez Id: 2162;100847034
Gene Symbol: F13A1;MIR5683
F13A1;MIR5683
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function. 24889649 2014
dbSNP: rs138754417
rs138754417
Entrez Id: 2162;100847034
Gene Symbol: F13A1;MIR5683
F13A1;MIR5683
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations. 24329762 2014
dbSNP: rs1396702202
rs1396702202
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function. 24889649 2014
dbSNP: rs1396702202
rs1396702202
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines. 24286209 2014
dbSNP: rs1396702202
rs1396702202
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations. 24329762 2014
dbSNP: rs367679357
rs367679357
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations. 24329762 2014
dbSNP: rs367679357
rs367679357
Entrez Id: 2162
Gene Symbol: F13A1
F13A1
CUI: C2750514
Disease:
Factor Xiii, A Subunit, Deficiency Of 		0.700 GeneticVariation UNIPROT Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in the F13A gene; diagnosis and classification according to the ISTH/SSC guidelines. 24286209 2014