F13B, coagulation factor XIII B chain, 2165

N. diseases: 47; N. variants: 23
Disease: Factor XIII, B Subunit, Deficiency Of ×
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: 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