F12, coagulation factor XII, 2161

N. diseases: 87; N. variants: 22
Disease: Factor XII Deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs183643295
rs183643295 		1.000 0.080 5 177404082 missense variant C/G snv 3.1E-03 1.1E-03
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1157280571
rs1157280571 		1.000 0.080 5 177402372 missense variant A/T snv 7.0E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs118204454
rs118204454 		1.000 0.080 5 177403994 missense variant C/G;T snv 4.4E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs118204455
rs118204455 		1.000 0.080 5 177406019 missense variant T/C snv 7.0E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs118204456
rs118204456 		0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199988476
rs199988476 		1.000 0.080 5 177402460 splice acceptor variant C/A;G;T snv 3.0E-05; 4.0E-04
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs766505234
rs766505234 		1.000 0.080 5 177402375 missense variant C/G snv 8.0E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs865853663
rs865853663 		1.000 0.080 5 177403878 missense variant C/T snv
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs932430490
rs932430490 		1.000 0.080 5 177403859 missense variant C/T snv
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1434731445
rs1434731445 		1.000 0.080 5 177402593 missense variant A/G snv 4.0E-06
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs201946800
rs201946800 		1.000 0.080 5 177402669 missense variant C/T snv 3.6E-05
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs767475486
rs767475486 		1.000 0.080 5 177402459 missense variant C/G;T snv 4.3E-06; 5.6E-05
CUI: C0015526
Disease: Factor XII Deficiency
Factor XII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018