F13A1, coagulation factor XIII A chain, 2162

N. diseases: 117; N. variants: 72
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: rs121913064
rs121913064 		1.000 0.080 6 6151813 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 6 1992 2016
dbSNP: rs138754417
rs138754417 		1.000 0.080 6 6167589 missense variant C/T snv 1.9E-03 2.3E-03
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1992 2016
dbSNP: rs1396702202
rs1396702202 		1.000 0.080 6 6195861 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1992 2016
dbSNP: rs367679357
rs367679357 		1.000 0.080 6 6174705 missense variant C/A;T snv 8.0E-06; 6.0E-05
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1992 2016
dbSNP: rs369187276
rs369187276 		0.882 0.080 6 6167531 missense variant C/G;T snv 4.0E-06; 9.1E-05
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1992 2016
dbSNP: rs375129902
rs375129902 		0.882 0.080 6 6151852 missense variant T/C snv 7.2E-05 5.6E-05
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1992 2016
dbSNP: rs757172838
rs757172838 		1.000 0.080 6 6167562 missense variant G/T snv 4.0E-06
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1992 2016
dbSNP: rs778206273
rs778206273 		1.000 0.080 6 6145672 missense variant T/C snv 4.0E-06
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1992 2016
dbSNP: rs121913072
rs121913072 		1.000 0.080 6 6222165 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C2750514
Disease: Factor Xiii, A Subunit, Deficiency Of
Factor Xiii, A Subunit, Deficiency Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1996 2017
dbSNP: rs10484323
rs10484323 		6 6271953 intron variant T/C snv 0.13
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs11243078
rs11243078 		6 6316569 intron variant T/G snv 0.15
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs12333289
rs12333289 		6 6263213 intron variant C/T snv 0.13
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs12664620
rs12664620 		6 6282710 intron variant A/G snv 0.31
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs140712764
rs140712764 		1.000 0.080 6 6266621 missense variant C/T snv 1.0E-04 2.4E-04
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1475072
rs1475072 		6 6313264 intron variant C/T snv 0.73
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1674043
rs1674043 		6 6310383 intron variant T/A snv 0.77
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1674045
rs1674045 		6 6310955 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: rs17141966
rs17141966 		6 6272392 intron variant T/C snv 0.13
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs17378819
rs17378819 		6 6307210 intron variant T/C 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: rs1742932
rs1742932 		6 6304298 intron variant G/A;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: rs1742934
rs1742934 		6 6308517 intron variant A/C snv 0.34
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1742937
rs1742937 		6 6309465 intron variant G/A snv 0.34
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs1781790
rs1781790 		6 6314349 intron variant G/C snv 0.78
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs2755413
rs2755413 		6 6310303 intron variant T/C snv 0.79
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.700 1.000 1 2013 2013
dbSNP: rs2755416
rs2755416 		6 6311468 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