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: rs1553926818
rs1553926818 		1.000 0.080 4 99591735 frameshift variant CA/- delins
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553927840
rs1553927840 		1.000 0.080 4 99608764 splice acceptor variant A/G snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1560614154
rs1560614154 		1.000 0.080 4 99582057 frameshift variant C/- delins
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1560621444
rs1560621444 		1.000 0.080 4 99601606 splice acceptor variant G/A snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs199422219
rs199422219 		1.000 0.080 4 99611156 stop gained C/T snv 7.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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