F11, coagulation factor XI, 2160

N. diseases: 100; N. variants: 139
Disease: 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: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.010 1.000 1 2008 2008
dbSNP: rs1334907475
rs1334907475 		0.925 0.080 4 186286491 missense variant G/C snv 4.0E-06
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.010 1.000 1 2004 2004
dbSNP: rs145906668
rs145906668 		0.925 0.080 4 186288514 missense variant C/G;T snv 4.0E-05
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.010 1.000 1 2005 2005
dbSNP: rs199657604
rs199657604 		0.925 0.080 4 186274224 missense variant A/G snv 1.5E-04 6.3E-05
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.010 1.000 1 2013 2013
dbSNP: rs200622588
rs200622588 		0.925 0.080 4 186286480 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.010 1.000 1 2008 2008
dbSNP: rs533626812
rs533626812 		0.925 0.080 4 186284231 missense variant G/C snv 1.2E-05 1.4E-05
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.010 1.000 1 2008 2008
dbSNP: rs753909969
rs753909969 		0.925 0.080 4 186284244 missense variant G/A snv 7.2E-05 4.2E-05
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.010 1.000 1 2008 2008
dbSNP: rs761254473
rs761254473 		0.925 0.080 4 186286434 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.010 1.000 1 2004 2004
dbSNP: rs901732635
rs901732635 		0.925 0.080 4 186284173 missense variant A/C snv
CUI: C4321502
Disease: Factor XI Deficiency
Factor XI Deficiency 		0.010 1.000 1 2008 2008