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: rs137852913
rs137852913 		1.000 2 46905517 missense variant G/C snv
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.800 1.000 4 2003 2010
dbSNP: rs137852914
rs137852914 		1.000 2 46905497 missense variant A/G snv 4.0E-06; 8.0E-06
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.800 1.000 4 2003 2010
dbSNP: rs78289603
rs78289603 		1.000 2 46907878 missense variant C/A;G snv
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.800 1.000 4 2003 2010
dbSNP: rs387906286
rs387906286 		0.925 0.080 2 46909018 splice region variant C/T snv 1.2E-05 1.4E-05
CUI: C4551981
Disease: Familial Multiple Coagulation Factor Deficiency I
Familial Multiple Coagulation Factor Deficiency I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1253799389
rs1253799389 		1.000 2 46909069 frameshift variant G/- delins 4.0E-06
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 0
dbSNP: rs1294221028
rs1294221028 		1.000 2 46907870 frameshift variant A/- del 3.5E-05
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 0
dbSNP: rs1558461545
rs1558461545 		1.000 2 46907847 frameshift variant CATCAAGC/- delins
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 0
dbSNP: rs387906286
rs387906286 		0.925 0.080 2 46909018 splice region variant C/T snv 1.2E-05 1.4E-05
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 0
dbSNP: rs387906287
rs387906287 		1.000 2 46907809 splice donor variant C/T snv
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 0
dbSNP: rs748641905
rs748641905 		0.882 0.080 2 46905501 missense variant A/T snv
CUI: C3150889
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2
FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2 		0.700 0
dbSNP: rs748641905
rs748641905 		0.882 0.080 2 46905501 missense variant A/T snv
CUI: C3494187
Disease: Factor VIII Deficiency
Factor VIII Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs748641905
rs748641905 		0.882 0.080 2 46905501 missense variant A/T snv
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008