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: rs1800949
rs1800949 		1.000 0.080 6 131807424 upstream gene variant C/G;T snv 0.18
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs943003
rs943003 		0.882 0.120 6 131819872 non coding transcript exon variant C/T snv 0.64
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs943003
rs943003 		0.882 0.120 6 131819872 non coding transcript exon variant C/T snv 0.64
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs943003
rs943003 		0.882 0.120 6 131819872 non coding transcript exon variant C/T snv 0.64
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 2008 2008
dbSNP: rs2021966
rs2021966 		1.000 0.080 6 131829299 intron variant A/G snv 0.42
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2021966
rs2021966 		1.000 0.080 6 131829299 intron variant A/G snv 0.42
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 2008 2008
dbSNP: rs858339
rs858339 		1.000 0.120 6 131832757 intron variant T/A snv 0.30
CUI: C0039494
Disease: Temporomandibular Joint Disorders
Temporomandibular Joint Disorders 		Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs858339
rs858339 		1.000 0.120 6 131832757 intron variant T/A snv 0.30
CUI: C0003862
Disease: Arthralgia
Arthralgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs858339
rs858339 		1.000 0.120 6 131832757 intron variant T/A snv 0.30
CUI: C3494419
Disease: Dentofacial Deformities
Dentofacial Deformities 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs997509
rs997509 		0.827 0.200 6 131846837 intron variant C/T snv 5.3E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs997509
rs997509 		0.827 0.200 6 131846837 intron variant C/T snv 5.3E-02
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs997509
rs997509 		0.827 0.200 6 131846837 intron variant C/T snv 5.3E-02
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs997509
rs997509 		0.827 0.200 6 131846837 intron variant C/T snv 5.3E-02
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 2006 2006
dbSNP: rs997509
rs997509 		0.827 0.200 6 131846837 intron variant C/T snv 5.3E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs997509
rs997509 		0.827 0.200 6 131846837 intron variant C/T snv 5.3E-02
CUI: C1706595
Disease: Pachyonychia Congenita, Jadassohn Lewandowsky Type
Pachyonychia Congenita, Jadassohn Lewandowsky Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs7773477
rs7773477 		1.000 0.160 6 131847857 intron variant G/A;T snv 1.8E-05; 5.3E-02; 1.9E-04 0.11
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs763922486
rs763922486 		0.925 0.200 6 131849999 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs763922486
rs763922486 		0.925 0.200 6 131849999 missense variant G/A;T snv 1.2E-05; 4.0E-06
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs956488367
rs956488367 		1.000 6 131850037 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C3809781
Disease: Cole disease
Cole disease 		0.010 1.000 1 2018 2018
dbSNP: rs1554278331
rs1554278331 		1.000 0.200 6 131850106 splice donor variant G/- delins
CUI: C2750078
Disease: Hypophosphatemic Rickets, Autosomal Recessive, 2
Hypophosphatemic Rickets, Autosomal Recessive, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases 0.700 0
dbSNP: rs397518477
rs397518477 		1.000 6 131851157 missense variant G/C snv
CUI: C3809781
Disease: Cole disease
Cole disease 		0.800 1.000 3 2013 2018
dbSNP: rs397518476
rs397518476 		1.000 6 131851202 missense variant G/C snv
CUI: C3809781
Disease: Cole disease
Cole disease 		0.800 1.000 3 2013 2018
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 0.800 10 2009 2019
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.040 1.000 4 2008 2019
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.020 1.000 2 2011 2015