F13B, coagulation factor XIII B chain, 2165

N. diseases: 47; N. variants: 23
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: rs121913075
rs121913075 		1.000 0.080 1 197055720 missense variant C/A snv
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 4 1993 2015
dbSNP: rs145637157
rs145637157 		1.000 0.080 1 197060462 missense variant C/T snv 2.3E-04 3.7E-04
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1993 2015
dbSNP: rs753009140
rs753009140 		1.000 0.080 1 197061933 missense variant A/T snv 8.0E-06 3.5E-05
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1993 2015
dbSNP: rs757094432
rs757094432 		1.000 0.080 1 197061829 missense variant G/A;T snv 8.0E-06
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1993 2015
dbSNP: rs778826479
rs778826479 		1.000 0.080 1 197057177 missense variant C/A snv 8.0E-06 2.1E-05
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1993 2015
dbSNP: rs10484502
rs10484502 		1 197041345 intron variant G/A snv 0.44
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs10754209
rs10754209 		1 197042447 intron variant T/A snv 0.44
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs10801586
rs10801586 		1 197052059 intron variant C/T snv 0.16
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs12134960
rs12134960 		1 197040378 splice acceptor variant G/C snv 0.17
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1412635
rs1412635 		1 197053918 intron variant G/A snv 0.44
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1611982
rs1611982 		1 197053638 intron variant G/A snv 0.43
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1615413
rs1615413 		1 197061187 intron variant A/G snv 0.43
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs2298882
rs2298882 		1 197065696 intron variant T/A;C;G snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs2298883
rs2298883 		1 197059504 intron variant A/G;T snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs5990
rs5990 		1 197039467 intron variant A/C snv 0.43
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs5996
rs5996 		1 197063215 intron variant C/A;G;T snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs5998
rs5998 		1 197040668 synonymous variant A/G snv 0.54 0.43
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs698859
rs698859 		1 197039235 3 prime UTR variant C/T snv 0.32
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs7518773
rs7518773 		1 197042506 intron variant A/C;G snv
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs857025
rs857025 		1 197041665 intron variant C/T snv 0.30
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1232302447
rs1232302447 		1.000 0.080 1 197063049 missense variant A/G snv 1.4E-05
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs797044453
rs797044453 		1.000 0.080 1 197052691 frameshift variant C/- del
CUI: C2750481
Disease: Factor XIII, B Subunit, Deficiency Of
Factor XIII, B Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs6003
rs6003 		0.851 0.240 1 197061891 missense variant C/T snv 0.88 0.76
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2007 2015
dbSNP: rs6003
rs6003 		0.851 0.240 1 197061891 missense variant C/T snv 0.88 0.76
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6003
rs6003 		0.851 0.240 1 197061891 missense variant C/T snv 0.88 0.76
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2013 2013