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: rs12509976
rs12509976 		4 99596167 intron variant C/T snv 7.7E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7668586
rs7668586 		4 99615206 intron variant C/T snv 0.11
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs767606327
rs767606327 		4 99613118 missense variant T/C;G snv 1.2E-05; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs767606327
rs767606327 		4 99613118 missense variant T/C;G snv 1.2E-05; 4.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs3816873
rs3816873 		0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3816873
rs3816873 		0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26
CUI: C0015696
Disease: Fatty Liver, Alcoholic
Fatty Liver, Alcoholic 		Digestive System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2009 2009
dbSNP: rs3816873
rs3816873 		0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3816873
rs3816873 		0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3816873
rs3816873 		0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3816873
rs3816873 		0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3816873
rs3816873 		0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3816873
rs3816873 		0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs3816873
rs3816873 		0.790 0.200 4 99583507 missense variant T/C snv 0.25 0.26
CUI: C0020597
Disease: Hypobetalipoproteinemias
Hypobetalipoproteinemias 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic 		Neoplasms; Hemic and Lymphatic Diseases 0.100 0.917 12 2006 2018
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C1709527
Disease: B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 		0.070 1.000 7 2006 2019
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.030 1.000 3 2009 2017
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.030 1.000 3 2009 2017
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0005699
Disease: Blast Phase
Blast Phase 		Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases 0.030 0.667 3 2006 2014
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0677936
Disease: Refractory cancer
Refractory cancer 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs748843032
rs748843032 		0.807 0.160 4 99594840 missense variant T/C snv 4.0E-06
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1800591
rs1800591 		0.882 0.120 4 99574331 intron variant G/T snv 0.26
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.020 1.000 2 2014 2014
dbSNP: rs1800591
rs1800591 		0.882 0.120 4 99574331 intron variant G/T snv 0.26
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800591
rs1800591 		0.882 0.120 4 99574331 intron variant G/T snv 0.26
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs767833468
rs767833468 		1.000 0.080 4 99618993 missense variant G/A snv 4.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 8 1996 2015