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: rs1560614646
rs1560614646 		1.000 0.080 4 99583431 stop gained A/T snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2007 2007
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: 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: rs1412189378
rs1412189378 		1.000 0.040 4 99583404 missense variant C/A snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System 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: 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: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs752100893
rs752100893 		1.000 4 99581913 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C0542037
Disease: Hypotriglyceridemia
Hypotriglyceridemia 		0.010 1.000 1 2010 2010
dbSNP: rs1800803
rs1800803 		1.000 0.080 4 99574424 intron variant A/T snv 0.43
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 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: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs61733139
rs61733139 		1.000 0.040 4 99583409 missense variant G/C snv 4.0E-02 4.9E-02
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1560621495
rs1560621495 		1.000 0.080 4 99601674 missense variant T/A snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2012 2012
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: 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: rs1057613
rs1057613 		1.000 0.040 4 99583828 3 prime UTR variant G/A snv 0.60
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive 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: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800804
rs1800804 		1.000 0.040 4 99574660 intron variant T/C snv 0.26
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3805335
rs3805335 		1.000 0.040 4 99586478 intron variant C/T snv 1.3E-02
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 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: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
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: rs2306986
rs2306986 		1.000 0.040 4 99583418 missense variant G/C;T snv 5.9E-02
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2017 2017
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: rs756998920
rs756998920 		1.000 0.040 4 99581967 missense variant G/A snv 3.4E-04 8.4E-05
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs781469754
rs781469754 		1.000 0.040 4 99591691 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2017 2017