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: rs387907168
rs387907168 		1.000 1 209707020 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C3553382
Disease: CORTISONE REDUCTASE DEFICIENCY 2
CORTISONE REDUCTASE DEFICIENCY 2 		0.700 0
dbSNP: rs12086634
rs12086634 		0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.040 1.000 4 2011 2017
dbSNP: rs12086634
rs12086634 		0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.030 1.000 3 2006 2011
dbSNP: rs12086634
rs12086634 		0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2011 2017
dbSNP: rs846910
rs846910 		0.882 0.160 1 209701909 intron variant A/G snv 0.95
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2011 2017
dbSNP: rs1000283
rs1000283 		0.925 0.080 1 209721316 intron variant G/A snv 0.18
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1000283
rs1000283 		0.925 0.080 1 209721316 intron variant G/A snv 0.18
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs10082248
rs10082248 		1.000 0.080 1 209693771 intron variant A/G;T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11119328
rs11119328 		1.000 1 209711973 intron variant C/A;T snv
CUI: C0233475
Disease: Euthymic mood
Euthymic mood 		0.010 1.000 1 2020 2020
dbSNP: rs11807619
rs11807619 		0.925 0.080 1 209708028 intron variant G/T snv 0.17
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11807619
rs11807619 		0.925 0.080 1 209708028 intron variant G/T snv 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs11811440
rs11811440 		1.000 1 209709555 intron variant C/A;T snv
CUI: C0233475
Disease: Euthymic mood
Euthymic mood 		0.010 1.000 1 2020 2020
dbSNP: rs12086634
rs12086634 		0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2006 2006
dbSNP: rs12086634
rs12086634 		0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs12086634
rs12086634 		0.827 0.280 1 209706914 intron variant T/G snv 0.21 0.20
CUI: C1392786
Disease: Cognitive changes
Cognitive changes 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs12565406
rs12565406 		1.000 0.040 1 209687741 intron variant G/A;T snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2235543
rs2235543 		0.925 0.080 1 209687323 intron variant T/A;C snv
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2235543
rs2235543 		0.925 0.080 1 209687323 intron variant T/A;C snv
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2235543
rs2235543 		0.925 0.080 1 209687323 intron variant T/A;C snv
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2235543
rs2235543 		0.925 0.080 1 209687323 intron variant T/A;C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2298930
rs2298930 		1.000 0.080 1 209722867 intron variant C/A;T snv 3.5E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3753519
rs3753519 		0.925 0.200 1 209702170 intron variant T/A;C snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3753519
rs3753519 		0.925 0.200 1 209702170 intron variant T/A;C snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs45487298
rs45487298 		0.882 0.120 1 209706871 intron variant -/A delins
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs45487298
rs45487298 		0.882 0.120 1 209706871 intron variant -/A delins
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019