F11-AS1, F11 antisense RNA 1, 285441

N. diseases: 15; N. variants: 61
Disease: Hereditary Factor XI Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs145906668
rs145906668
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		T 0.710 GeneticVariation CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
dbSNP: rs145906668
rs145906668
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		T 0.710 GeneticVariation CLINVAR Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China. 27067486 2016
dbSNP: rs145906668
rs145906668
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		T 0.710 GeneticVariation CLINVAR Characterisation of five factor XI mutations. 17549289 2007
dbSNP: rs145906668
rs145906668
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		0.710 GeneticVariation BEFREE Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency. 15749683 2005
dbSNP: rs145906668
rs145906668
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		T 0.710 GeneticVariation CLINVAR Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency. 15749683 2005
dbSNP: rs145906668
rs145906668
Entrez Id: 2160;285441
Gene Symbol: F11;F11-AS1
F11;F11-AS1
CUI: C0015523
Disease:
Hereditary Factor XI Deficiency 		T 0.710 GeneticVariation CLINVAR Molecular basis of severe factor XI deficiency in seven families from the west of France. Seven novel mutations, including an ancient Q88X mutation. 14717969 2004