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: rs104894539
rs104894539 		16 31094645 missense variant C/A snv 4.3E-06 1.4E-05
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2004 2011
dbSNP: rs104894540
rs104894540 		16 31094596 missense variant A/G snv
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2004 2011
dbSNP: rs104894541
rs104894541 		16 31094558 missense variant T/C snv 4.1E-06
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2004 2011
dbSNP: rs72547528
rs72547528 		0.925 0.120 16 31091334 missense variant G/A;C snv 7.2E-05; 8.1E-06
CUI: C1843832
Disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 0
dbSNP: rs61742245
rs61742245 		16 31094624 missense variant C/A;T snv 2.4E-03
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.720 1.000 4 2004 2018
dbSNP: rs72547529
rs72547529 		16 31093399 missense variant C/T snv 2.0E-04 8.4E-04
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.720 1.000 2 2011 2016
dbSNP: rs104894542
rs104894542 		16 31091243 missense variant A/C snv
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2004 2011
dbSNP: rs8050894
rs8050894 		16 31093188 intron variant C/G;T snv
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs755767348
rs755767348 		16 31093366 missense variant T/A snv 8.0E-06
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs770703948
rs770703948 		16 31094654 missense variant C/A;G;T snv 8.6E-06; 4.3E-06
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs2359612
rs2359612 		0.851 0.120 16 31092475 intron variant A/G snv 0.66
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2009 2015
dbSNP: rs17708472
rs17708472 		16 31094032 non coding transcript exon variant G/A snv 0.17
CUI: C2608079
Disease: WARFARIN SENSITIVITY (disorder)
WARFARIN SENSITIVITY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2359612
rs2359612 		0.851 0.120 16 31092475 intron variant A/G snv 0.66
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2359612
rs2359612 		0.851 0.120 16 31092475 intron variant A/G snv 0.66
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2359612
rs2359612 		0.851 0.120 16 31092475 intron variant A/G snv 0.66
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2359612
rs2359612 		0.851 0.120 16 31092475 intron variant A/G snv 0.66
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2359612
rs2359612 		0.851 0.120 16 31092475 intron variant A/G snv 0.66
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2359612
rs2359612 		0.851 0.120 16 31092475 intron variant A/G snv 0.66
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs61742245
rs61742245 		16 31094624 missense variant C/A;T snv 2.4E-03
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs72547528
rs72547528 		0.925 0.120 16 31091334 missense variant G/A;C snv 7.2E-05; 8.1E-06
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs72547528
rs72547528 		0.925 0.120 16 31091334 missense variant G/A;C snv 7.2E-05; 8.1E-06
CUI: C0042880
Disease: Vitamin K Deficiency
Vitamin K Deficiency 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7294
rs7294 		1.000 0.040 16 31091000 3 prime UTR variant C/T snv 0.41
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs9923231
rs9923231 		0.851 0.200 16 31096368 upstream gene variant C/A;G;T snv
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9923231
rs9923231 		0.851 0.200 16 31096368 upstream gene variant C/A;G;T snv
CUI: C2608079
Disease: WARFARIN SENSITIVITY (disorder)
WARFARIN SENSITIVITY (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs9923231
rs9923231 		0.851 0.200 16 31096368 upstream gene variant C/A;G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018