Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant ×
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: rs374476971
rs374476971 		1.000 0.080 2 127423111 missense variant G/C;T snv 1.7E-05 7.0E-06
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs1053253907
rs1053253907 		1.000 0.080 2 127426236 non coding transcript exon variant C/T snv
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918141
rs121918141 		1.000 0.080 2 127428602 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918155
rs121918155 		1.000 0.080 2 127426227 missense variant G/A;C snv
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918158
rs121918158 		1.000 0.080 2 127428575 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918159
rs121918159 		1.000 0.080 2 127423319 missense variant A/C snv 7.0E-06
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918160
rs121918160 		1.000 0.080 2 127428495 missense variant C/T snv 8.0E-06
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1321566264
rs1321566264 		0.925 0.120 2 127428522 missense variant C/T snv 1.4E-05
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1333329860
rs1333329860 		1.000 0.080 2 127428766 frameshift variant -/G delins 8.0E-06
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1558715857
rs1558715857 		1.000 0.080 2 127426101 frameshift variant -/TT ins
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1558718572
rs1558718572 		1.000 0.080 2 127428802 stop gained G/A snv
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199469471
rs199469471 		0.882 0.080 2 127428449 missense variant G/A;C snv 1.2E-05; 2.4E-05
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs199469472
rs199469472 		0.925 0.080 2 127428818 missense variant G/T snv
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs369504169
rs369504169 		0.925 0.120 2 127421337 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs753436021
rs753436021 		1.000 0.080 2 127428881 missense variant T/C snv 4.0E-05 7.0E-06
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs756467027
rs756467027 		1.000 0.080 2 127428734 missense variant G/A;C snv 4.8E-05
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs774572099
rs774572099 		1.000 0.080 2 127421336 missense variant C/A;T snv 8.0E-06
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs121918146
rs121918146 		0.827 0.200 2 127428485 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 1992 1992
dbSNP: rs1553423955
rs1553423955 		1.000 0.080 2 127422916 splice acceptor variant G/A snv
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2007 2007
dbSNP: rs121918150
rs121918150 		0.925 0.080 2 127428560 missense variant G/A;T snv 8.0E-06
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 1991 1992
dbSNP: rs1448630830
rs1448630830 		1.000 0.080 2 127421411 stop gained G/A;T snv
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 1995 2006
dbSNP: rs1553424043
rs1553424043 		0.925 0.120 2 127423123 missense variant T/C snv
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 1991 2007
dbSNP: rs1305782685
rs1305782685 		1.000 0.080 2 127428726 missense variant G/C snv
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 2000 2017
dbSNP: rs146922325
rs146922325 		0.851 0.160 2 127426114 missense variant C/T snv 7.5E-04 3.2E-04
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 1995 2014
dbSNP: rs767112991
rs767112991 		1.000 0.080 2 127428371 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 4 1995 2017