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: rs72558191
rs72558191 		10 94947919 missense variant T/G snv
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057910
rs1057910 		0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2007 2014
dbSNP: rs1799853
rs1799853 		0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2007 2014
dbSNP: rs1057910
rs1057910 		0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.020 1.000 2 2014 2017
dbSNP: rs1799853
rs1799853 		0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2006 2014
dbSNP: rs1057910
rs1057910 		0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1057910
rs1057910 		0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0278134
Disease: Absence of sensation
Absence of sensation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057910
rs1057910 		0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1057910
rs1057910 		0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
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 2019 2019
dbSNP: rs1057910
rs1057910 		0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1057910
rs1057910 		0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1057910
rs1057910 		0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0011991
Disease: Diarrhea
Diarrhea 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs1057910
rs1057910 		0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0266807
Disease: Acute gastrointestinal hemorrhage
Acute gastrointestinal hemorrhage 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1057910
rs1057910 		0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs1057910
rs1057910 		0.776 0.280 10 94981296 missense variant A/C;G snv 6.3E-02; 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1057911
rs1057911 		1.000 0.080 10 94988980 synonymous variant A/T snv 6.3E-02 4.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs150435881
rs150435881 		1.000 0.080 10 94947853 missense variant C/A;T snv 4.0E-06; 5.6E-05
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs17847036
rs17847036 		10 94941917 synonymous variant G/A snv 5.7E-04 2.4E-04
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: rs1799853
rs1799853 		0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1799853
rs1799853 		0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1799853
rs1799853 		0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1799853
rs1799853 		0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1799853
rs1799853 		0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1799853
rs1799853 		0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1799853
rs1799853 		0.763 0.320 10 94942290 missense variant C/T snv 9.2E-02 8.9E-02
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018