F13A1, coagulation factor XIII A chain, 2162

N. diseases: 117; N. variants: 72
Disease: Hereditary Factor XIII 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: rs1561673120
rs1561673120 		1.000 0.080 6 6266566 missense variant C/A snv
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1173258177
rs1173258177 		1.000 0.080 6 6151855 missense variant A/G snv
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs369187276
rs369187276 		0.882 0.080 6 6167531 missense variant C/G;T snv 4.0E-06; 9.1E-05
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs375129902
rs375129902 		0.882 0.080 6 6151852 missense variant T/C snv 7.2E-05 5.6E-05
CUI: C0015530
Disease: Hereditary Factor XIII Deficiency
Hereditary Factor XIII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010