F11, coagulation factor XI, 2160

N. diseases: 100; N. variants: 139
Disease: Hereditary Factor XI 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: rs142952627
rs142952627 		1.000 0.080 4 186287734 stop gained G/A;T snv 8.0E-06
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1989 2015
dbSNP: rs281875250
rs281875250 		1.000 0.080 4 186288460 stop gained C/A;T snv 4.0E-06
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 20 1989 2015
dbSNP: rs281875251
rs281875251 		1.000 0.080 4 186288525 stop gained G/A;T snv 4.0E-06
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 20 1989 2015
dbSNP: rs281875270
rs281875270 		1.000 0.080 4 186280378 stop gained G/A;T snv 1.6E-05; 4.0E-06
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1989 2015
dbSNP: rs281875279
rs281875279 		1.000 0.080 4 186276373 stop gained G/A;C snv 1.6E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1989 2015
dbSNP: rs121965063
rs121965063 		1.000 0.080 4 186274193 stop gained G/T snv 9.3E-04 6.4E-04
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 7 1989 2019
dbSNP: rs201007090
rs201007090 		1.000 0.080 4 186286490 stop gained G/A;C snv 3.2E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 2000 2014
dbSNP: rs747702749
rs747702749 		1.000 0.080 4 186276365 stop gained C/T snv 1.2E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 2006 2014
dbSNP: rs756908183
rs756908183 		1.000 0.080 4 186274190 stop gained C/T snv 2.8E-05 3.5E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 1999 2008
dbSNP: rs143648758
rs143648758 		1.000 0.080 4 186274198 stop gained C/A snv 1.2E-05 1.4E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 2004 2006
dbSNP: rs768409400
rs768409400 		1.000 0.080 4 186271620 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 2011 2014
dbSNP: rs121965066
rs121965066 		1.000 0.080 4 186274228 stop gained C/A snv 3.2E-05 4.9E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1554081288
rs1554081288 		1.000 0.080 4 186267152 stop gained C/T snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs375422404
rs375422404 		1.000 0.080 4 186286423 stop gained C/T snv 1.2E-05 2.8E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs538083600
rs538083600 		1.000 0.080 4 186284190 stop gained C/T snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs752907087
rs752907087 		1.000 0.080 4 186276317 stop gained C/T snv 1.6E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2004 2004
dbSNP: rs754087775
rs754087775 		1.000 0.080 4 186276386 stop gained C/T snv 4.0E-06
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2006 2006
dbSNP: rs773905328
rs773905328 		1.000 0.080 4 186280552 stop gained C/A;T snv 3.6E-05; 4.0E-06
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2003 2003
dbSNP: rs786204724
rs786204724 		1.000 0.080 4 186285646 stop gained C/A snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1057517035
rs1057517035 		1.000 0.080 4 186285723 stop gained C/T snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554081886
rs1554081886 		1.000 0.080 4 186271707 stop gained -/A delins
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs762013077
rs762013077 		1.000 0.080 4 186273071 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs770505620
rs770505620 		1.000 0.080 4 186280097 stop gained C/T snv 8.8E-05 1.4E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121965064
rs121965064 		0.925 0.080 4 186280258 missense variant T/C snv 1.1E-03 6.4E-04
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 26 1989 2019
dbSNP: rs281875275
rs281875275 		1.000 0.080 4 186287800 missense variant G/A snv 1.4E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 26 1989 2019