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: 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
dbSNP: rs1554083754
rs1554083754 		1.000 0.080 4 186285811 missense variant 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 0.800 1.000 25 1989 2015
dbSNP: rs139695003
rs139695003 		1.000 0.080 4 186287720 missense variant C/A;T snv 4.0E-06; 8.7E-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 23 1989 2019
dbSNP: rs121965069
rs121965069 		1.000 0.080 4 186271719 missense variant T/C 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 0.800 1.000 22 1989 2015
dbSNP: rs121965070
rs121965070 		1.000 0.080 4 186280065 missense variant A/T snv 5.0E-04 5.4E-04
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 22 1989 2015
dbSNP: rs121965071
rs121965071 		1.000 0.080 4 186284209 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 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 0.800 1.000 22 1989 2015
dbSNP: rs281875245
rs281875245 		1.000 0.080 4 186276299 missense variant G/A;T snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 21 1989 2019
dbSNP: rs281875257
rs281875257 		1.000 0.080 4 186280300 missense variant G/A snv 2.0E-05 5.6E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 21 1989 2019
dbSNP: rs281875272
rs281875272 		1.000 0.080 4 186273154 missense variant A/G 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 0.800 1.000 21 1989 2019
dbSNP: rs28934608
rs28934608 		0.925 0.160 4 186280333 missense variant C/T snv 2.4E-05 2.1E-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 21 1989 2019
dbSNP: rs28934609
rs28934609 		1.000 0.080 4 186288518 missense variant C/A;T snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 21 1989 2019
dbSNP: rs121965065
rs121965065 		1.000 0.080 4 186285711 missense variant T/G snv 4.0E-06 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 20 1989 2015
dbSNP: rs121965067
rs121965067 		1.000 0.080 4 186284167 missense variant 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 0.800 1.000 20 1989 2015
dbSNP: rs121965068
rs121965068 		1.000 0.080 4 186284245 missense variant 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 0.800 1.000 20 1989 2015
dbSNP: rs121965072
rs121965072 		1.000 0.080 4 186288496 missense variant G/C snv
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: 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: rs768474112
rs768474112 		1.000 0.080 4 186273177 splice donor variant G/A snv 2.0E-05 2.1E-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 5 2006 2011
dbSNP: rs281875242
rs281875242 		1.000 0.080 4 186285775 missense variant T/G snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 21 1989 2015
dbSNP: rs145906668
rs145906668 		0.925 0.080 4 186288514 missense variant C/G;T snv 4.0E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 5 2004 2019
dbSNP: rs753909969
rs753909969 		0.925 0.080 4 186284244 missense variant G/A snv 7.2E-05 4.2E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 2 2008 2019
dbSNP: rs140068026
rs140068026 		1.000 0.080 4 186286441 missense variant T/A;C;G snv 2.8E-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: 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: rs145168351
rs145168351 		1.000 0.080 4 186280053 missense variant G/A;T snv 1.8E-04; 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