Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2036914
rs2036914
F11
0.882 0.160 4 186271327 intron variant T/C snv 0.57
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.830 1.000 3 2011 2019
dbSNP: rs121965064
rs121965064
F11
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 		0.810 1.000 1 1989 2019
dbSNP: rs3756008
rs3756008
F11
4 186264231 upstream gene variant A/T snv 0.36
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.810 1.000 1 2011 2014
dbSNP: rs2289252
rs2289252
F11 ; F11-AS1
1.000 0.040 4 186286227 non coding transcript exon variant C/T snv 0.35
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.740 1.000 4 2013 2019
dbSNP: rs145906668
rs145906668
F11 ; F11-AS1
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 		0.710 1.000 1 2004 2019
dbSNP: rs281875242
rs281875242
F11 ; F11-AS1
1.000 0.080 4 186285775 missense variant T/G snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.710 1.000 1 1989 2015
dbSNP: rs753909969
rs753909969
F11
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 		0.710 1.000 1 2008 2019
dbSNP: rs925451
rs925451
F11
4 186266415 intron variant G/A snv 0.34
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.710 1.000 1 2010 2012
dbSNP: rs2289252
rs2289252
F11 ; F11-AS1
1.000 0.040 4 186286227 non coding transcript exon variant C/T snv 0.35
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.030 1.000 3 2009 2016
dbSNP: rs2036914
rs2036914
F11
0.882 0.160 4 186271327 intron variant T/C snv 0.57
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.020 1.000 2 2009 2016
dbSNP: rs1037131052
rs1037131052
F11
1.000 0.080 4 186284121 missense variant G/A snv
CUI: C0272330
Disease: Factor XI deficiency, type II
Factor XI deficiency, type II 		0.010 1.000 1 2007 2007
dbSNP: rs121965064
rs121965064
F11
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: rs121965064
rs121965064
F11
0.925 0.080 4 186280258 missense variant T/C snv 1.1E-03 6.4E-04
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.010 1.000 1 2008 2008
dbSNP: rs1334907475
rs1334907475
F11 ; F11-AS1
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: rs1334907475
rs1334907475
F11 ; F11-AS1
0.925 0.080 4 186286491 missense variant G/C snv 4.0E-06
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.010 1.000 1 2004 2004
dbSNP: rs1424438515
rs1424438515
F11
0.925 0.080 4 186274140 missense variant A/G;T snv 4.0E-06
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		0.010 1.000 1 2018 2018
dbSNP: rs1424438515
rs1424438515
F11
0.925 0.080 4 186274140 missense variant A/G;T snv 4.0E-06
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.010 1.000 1 2018 2018
dbSNP: rs145906668
rs145906668
F11 ; F11-AS1
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
F11
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: rs199657604
rs199657604
F11
0.925 0.080 4 186274224 missense variant A/G snv 1.5E-04 6.3E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.010 1.000 1 2013 2013
dbSNP: rs200622588
rs200622588
F11 ; F11-AS1
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: rs200622588
rs200622588
F11 ; F11-AS1
0.925 0.080 4 186286480 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		0.010 1.000 1 2008 2008
dbSNP: rs2036914
rs2036914
F11
0.882 0.160 4 186271327 intron variant T/C snv 0.57
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2019 2019
dbSNP: rs2036914
rs2036914
F11
0.882 0.160 4 186271327 intron variant T/C snv 0.57
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.010 1.000 1 2019 2019
dbSNP: rs28934608
rs28934608
F11
0.925 0.160 4 186280333 missense variant C/T snv 2.4E-05 2.1E-05
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		0.010 1.000 1 1999 1999