F11-AS1, F11 antisense RNA 1, 285441

N. diseases: 15; N. variants: 61
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: rs1057516506
rs1057516506 		1.000 0.080 4 186286414 splice acceptor variant G/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: 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: rs1057517171
rs1057517171 		1.000 0.080 4 186287783 frameshift variant TCTGTGC/- del
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: rs1057517204
rs1057517204 		1.000 0.080 4 186285637 splice acceptor variant G/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 0
dbSNP: rs1554083727
rs1554083727 		1.000 0.080 4 186285662 frameshift variant T/- del
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: rs1554083734
rs1554083734 		1.000 0.080 4 186285693 frameshift variant AAAAGAGGACACAT/- 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: rs1554083736
rs1554083736 		1.000 0.080 4 186285708 frameshift variant CTTT/- 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: rs1554083758
rs1554083758 		1.000 0.080 4 186285815 splice donor variant T/C snv
CUI: C0015523
Disease: Hereditary Factor XI Deficiency
Hereditary Factor XI Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554084031
rs1554084031 		1.000 0.080 4 186287726 frameshift variant -/GA 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: rs369935706
rs369935706 		1.000 0.080 4 186287762 missense variant A/G snv 8.0E-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 0.700 0
dbSNP: rs1334907475
rs1334907475 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs761254473
rs761254473 		0.925 0.080 4 186286434 missense variant C/G;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 0.010 1.000 1 2004 2004
dbSNP: rs1057516777
rs1057516777 		1.000 0.080 4 186286489 frameshift variant -/G 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 1.000 2 2003 2008
dbSNP: rs200622588
rs200622588 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
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: rs373297713
rs373297713 		1.000 0.080 4 186287824 splice donor variant G/A snv 8.0E-06 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 3 1989 2013
dbSNP: rs1554083753
rs1554083753 		1.000 0.080 4 186285803 frameshift variant -/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 1.000 1 2013 2013
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: 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: 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: 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: 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: 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: rs281875241
rs281875241 		1.000 0.080 4 186285694 missense variant T/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 20 1989 2015