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: 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: 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: 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: 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: 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
dbSNP: rs281875249
rs281875249 		1.000 0.080 4 186286475 missense variant G/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 20 1989 2015
dbSNP: rs281875255
rs281875255 		1.000 0.080 4 186288558 missense 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 1.000 20 1989 2015
dbSNP: rs281875258
rs281875258 		1.000 0.080 4 186286451 missense variant A/G 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: rs281875263
rs281875263 		1.000 0.080 4 186287685 missense variant C/G 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: rs281875276
rs281875276 		1.000 0.080 4 186288589 missense variant T/G snv 8.0E-06 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 0.700 1.000 20 1989 2015
dbSNP: rs281875278
rs281875278 		1.000 0.080 4 186286465 missense 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 1.000 20 1989 2015
dbSNP: rs542967227
rs542967227 		1.000 0.080 4 186285765 missense variant G/A snv 1.0E-04 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 0.700 1.000 6 2003 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: 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: 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: 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: 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