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: rs757583846
rs757583846 		1.000 0.080 2 127421381 missense variant C/T snv 2.0E-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 0.800 1.000 24 1987 2015
dbSNP: rs121918153
rs121918153 		0.925 0.080 2 127426208 missense variant G/A;T snv 9.5E-05; 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 0.800 1.000 19 1987 2015
dbSNP: rs121918142
rs121918142 		1.000 0.080 2 127428892 missense variant G/C snv 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 0.800 1.000 16 1987 2015
dbSNP: rs121918143
rs121918143 		0.882 0.080 2 127426180 missense variant C/A;T snv 4.0E-06; 2.8E-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 0.800 1.000 16 1987 2015
dbSNP: rs121918152
rs121918152 		1.000 0.080 2 127426207 missense variant C/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 0.800 1.000 16 1987 2015
dbSNP: rs121918154
rs121918154 		1.000 0.080 2 127428374 missense variant C/A;T snv 4.0E-06; 2.0E-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 0.800 1.000 16 1987 2015
dbSNP: rs142742242
rs142742242 		0.925 0.080 2 127428761 missense variant G/A snv 3.2E-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 1.000 16 1987 2015
dbSNP: rs121918150
rs121918150 		0.925 0.080 2 127428560 missense variant G/A;T snv 8.0E-06
CUI: C2676759
Disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 7 1992 2015
dbSNP: rs121918151
rs121918151 		1.000 0.080 2 127428426 missense variant C/T snv
CUI: C2676759
Disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 7 1992 2015
dbSNP: rs1799810
rs1799810 		1.000 0.040 2 127418464 5 prime UTR variant A/T snv 0.38 0.44
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.800 1.000 2 2010 2017
dbSNP: rs1799810
rs1799810 		1.000 0.040 2 127418464 5 prime UTR variant A/T snv 0.38 0.44
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.800 1.000 2 2010 2017
dbSNP: rs1158867
rs1158867 		1.000 0.080 2 127419801 splice region variant C/T snv 0.51
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.800 1.000 1 2010 2010
dbSNP: rs1158867
rs1158867 		1.000 0.080 2 127419801 splice region variant C/T snv 0.51
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.800 1.000 1 2010 2010
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: rs1211098698
rs1211098698 		1.000 0.080 2 127428666 missense variant C/T snv 4.0E-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 1.000 16 1987 2015
dbSNP: rs121918145
rs121918145 		1.000 0.080 2 127426178 missense variant C/T snv 4.0E-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 1.000 16 1987 2015
dbSNP: rs121918148
rs121918148 		0.925 0.080 2 127421397 missense variant 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 1.000 16 1987 2015
dbSNP: rs121918149
rs121918149 		0.882 0.080 2 127421438 missense variant G/A snv 5.2E-05 7.7E-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 16 1987 2015
dbSNP: rs201907715
rs201907715 		1.000 0.080 2 127428542 missense variant C/T snv 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 1.000 16 1987 2015
dbSNP: rs370813536
rs370813536 		1.000 0.080 2 127423306 missense variant G/A;C 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 1.000 16 1987 2015
dbSNP: rs766261022
rs766261022 		1.000 0.080 2 127428579 missense variant C/T snv 1.6E-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 1.000 16 1987 2015
dbSNP: rs774584131
rs774584131 		1.000 0.080 2 127427154 missense variant T/C snv 1.2E-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 16 1987 2015
dbSNP: rs199469469
rs199469469 		1.000 0.080 2 127426121 inframe deletion AAG/- delins
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 7 1998 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
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