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: rs3732950
rs3732950 		3 10293297 non coding transcript exon variant G/A snv 4.9E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C1561826
Disease: Overweight and obesity
Overweight and obesity 		0.010 1.000 1 2019 2019
dbSNP: rs34911341
rs34911341 		0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03
CUI: C2676079
Disease: METABOLIC SYNDROME, SUSCEPTIBILITY TO
METABOLIC SYNDROME, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C4016925
Disease: OBESITY, AGE AT ONSET OF
OBESITY, AGE AT ONSET OF 		0.700 0
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C2676079
Disease: METABOLIC SYNDROME, SUSCEPTIBILITY TO
METABOLIC SYNDROME, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 < 0.001 2 2006 2008
dbSNP: rs26802
rs26802 		0.925 0.160 3 10290681 intron variant T/G snv 0.31
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs34911341
rs34911341 		0.882 0.200 3 10289835 missense variant C/T snv 7.0E-03 7.3E-03
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs4684677
rs4684677 		0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0242510
Disease: Drug usage
Drug usage 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs27647
rs27647 		0.925 0.120 3 10290784 5 prime UTR variant C/T snv 0.67
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs26802
rs26802 		0.925 0.160 3 10290681 intron variant T/G snv 0.31
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2006 2012
dbSNP: rs4684677
rs4684677 		0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4684677
rs4684677 		0.742 0.360 3 10286769 missense variant T/A snv 0.10 6.6E-02
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus 		Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs696217
rs696217 		0.662 0.640 3 10289773 missense variant G/T snv 8.8E-02 7.1E-02
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2015 2015