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: 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: rs374270497
rs374270497 		0.925 0.040 6 131860504 missense variant C/A;T snv 2.0E-05
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.800 1.000 8 2003 2016
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: rs148462924
rs148462924 		1.000 0.040 6 131872076 missense variant A/C;G snv 4.0E-06; 8.8E-05
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs373044722
rs373044722 		0.925 0.200 6 131872926 missense variant C/T snv 8.0E-06
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: rs760786509
rs760786509 		1.000 0.040 6 131854955 missense variant C/A snv 2.0E-05
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs764735802
rs764735802 		1.000 0.040 6 131864526 missense variant G/A snv 8.0E-06
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
dbSNP: rs777367269
rs777367269 		1.000 0.040 6 131877024 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C4551985
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 		Nutritional and Metabolic Diseases 0.700 1.000 7 2003 2016
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: 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: rs121908249
rs121908249 		1.000 0.200 6 131890435 missense variant A/C;G snv 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 0.800 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: 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
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
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: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013