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: rs121918025
rs121918025 		0.925 0.080 6 131861704 missense variant G/T snv
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.800 1.000 7 2003 2016
dbSNP: rs121918026
rs121918026 		1.000 0.040 6 131864886 missense variant A/T snv
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.800 1.000 7 2003 2016
dbSNP: rs387906673
rs387906673 		1.000 0.040 6 131874314 missense variant G/C snv
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.800 1.000 7 2003 2016
dbSNP: rs121908248
rs121908248 		0.925 0.200 6 131860388 missense variant G/C;T snv
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 0.800 1.000 3 2010 2015
dbSNP: rs397518475
rs397518475 		1.000 6 131851241 missense variant G/A 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: 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: rs7754561
rs7754561 		0.882 0.200 6 131891554 3 prime UTR variant A/G snv 0.44
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2008 2013
dbSNP: rs1044548
rs1044548 		1.000 0.080 6 131890623 3 prime UTR variant G/A snv 0.12
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: rs11964389
rs11964389 		1.000 0.080 6 131890632 3 prime UTR variant G/A;C;T snv
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: rs1243920034
rs1243920034 		0.925 0.040 6 131873023 missense variant A/G snv
CUI: C1859727
Disease: Arterial calcification of infancy
Arterial calcification of infancy 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1799774
rs1799774 		0.882 0.200 6 131882331 intron variant T/- delins
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: rs1799774
rs1799774 		0.882 0.200 6 131882331 intron variant T/- delins
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1799774
rs1799774 		0.882 0.200 6 131882331 intron variant T/- delins
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: 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: rs1974201
rs1974201 		1.000 0.080 6 131889981 intron variant G/A;C;T snv
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
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: rs55725924
rs55725924 		1.000 0.080 6 131894348 3 prime UTR variant T/A;C snv
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 2017 2017
dbSNP: rs62424521
rs62424521 		6 131878279 intron variant C/T snv 2.0E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs7754561
rs7754561 		0.882 0.200 6 131891554 3 prime UTR variant A/G snv 0.44
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: rs7754561
rs7754561 		0.882 0.200 6 131891554 3 prime UTR variant A/G snv 0.44
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: rs7754586
rs7754586 		1.000 0.080 6 131891602 3 prime UTR variant A/C snv 0.30
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 2017 2017
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