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: rs750845408
rs750845408 		0.925 0.080 5 96423317 missense variant T/C snv 4.5E-05 7.0E-05
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs750845408
rs750845408 		0.925 0.080 5 96423317 missense variant T/C snv 4.5E-05 7.0E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs765019354
rs765019354 		1.000 0.080 5 96429260 stop gained G/A;C snv 4.0E-06; 1.6E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6235
rs6235 		0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23
CUI: C0202098
Disease: Insulin measurement
Insulin measurement 		0.800 1.000 2 2011 2013
dbSNP: rs6235
rs6235 		0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2019 2019
dbSNP: rs6232
rs6232 		0.925 0.080 5 96416081 missense variant T/C snv 3.9E-02 3.2E-02
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2014 2017
dbSNP: rs137852821
rs137852821 		1.000 0.120 5 96399020 missense variant C/T snv
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 3 1997 2007
dbSNP: rs137852824
rs137852824 		1.000 0.120 5 96410949 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 3 1997 2007
dbSNP: rs6234
rs6234 		0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.050 0.600 5 2008 2015
dbSNP: rs6235
rs6235 		0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.100 0.700 10 2008 2015
dbSNP: rs6232
rs6232 		0.925 0.080 5 96416081 missense variant T/C snv 3.9E-02 3.2E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.100 1.000 13 2006 2019