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: rs1128501
rs1128501 		7 87566218 missense variant C/A snv
CUI: C1861502
Disease: COLCHICINE RESISTANCE
COLCHICINE RESISTANCE 		0.700 0
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0020651
Disease: Hypotension, Orthostatic
Hypotension, Orthostatic 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C1368683
Disease: Epithelioma
Epithelioma 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs9282564
rs9282564 		1.000 0.080 7 87600124 missense variant T/A;C;G snv 7.3E-02 7.3E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0004698
Disease: Balkan Nephropathy
Balkan Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1164376164
rs1164376164 		0.851 0.200 7 87601024 5 prime UTR variant A/G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1922242
rs1922242 		0.827 0.120 7 87544351 intron variant A/T snv 0.43
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1922242
rs1922242 		0.827 0.120 7 87544351 intron variant A/T snv 0.43
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs2032582
rs2032582 		0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0004698
Disease: Balkan Nephropathy
Balkan Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2004 2004
dbSNP: rs2235035
rs2235035 		0.925 0.040 7 87549770 intron variant G/A snv 0.29
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs2235035
rs2235035 		0.925 0.040 7 87549770 intron variant G/A snv 0.29
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0677936
Disease: Refractory cancer
Refractory cancer 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		Neoplasms 0.010 < 0.001 1 2005 2005
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0442874
Disease: Neuropathy
Neuropathy 		Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1045642
rs1045642 		0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0525041
Disease: Neurobehavioral Manifestations
Neurobehavioral Manifestations 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2006 2006