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: 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: 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: rs566921725
rs566921725 		5 96412752 intron variant -/GTTGTTTTTTTTTTTT delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6234
rs6234 		0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6234
rs6234 		0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2015 2015
dbSNP: rs6234
rs6234 		0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6234
rs6234 		0.851 0.160 5 96393270 missense variant G/C snv 0.27 0.24
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs6235
rs6235 		0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs6235
rs6235 		0.925 0.120 5 96393194 missense variant C/G snv 0.26 0.23
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 1 2013 2013
dbSNP: rs137852822
rs137852822 		1.000 0.120 5 96412452 stop gained C/A 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 0.700 0
dbSNP: rs137852823
rs137852823 		1.000 0.120 5 96416102 inframe deletion TGC/- delins
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 0.700 0
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
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: 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: 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: rs155971
rs155971 		1.000 0.080 5 96414692 intron variant T/C snv 0.57
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs155979
rs155979 		0.925 0.080 5 96434194 intron variant G/A;C snv
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs155979
rs155979 		0.925 0.080 5 96434194 intron variant G/A;C snv
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1799904
rs1799904 		1.000 0.080 5 96429259 missense variant C/A;T snv 4.0E-06; 2.1E-03
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 1996 1996
dbSNP: rs1799904
rs1799904 		1.000 0.080 5 96429259 missense variant C/A;T snv 4.0E-06; 2.1E-03
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs271924
rs271924 		1.000 0.040 5 96401720 intron variant A/T snv 0.32
CUI: C0278704
Disease: Malignant Childhood Neoplasm
Malignant Childhood Neoplasm 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3762986
rs3762986 		0.925 0.080 5 96435158 intron variant C/A;T snv
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3762986
rs3762986 		0.925 0.080 5 96435158 intron variant C/A;T snv
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014