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: rs587776797
rs587776797 		1.000 0.200 6 131883709 frameshift variant -/A 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: 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: rs9402349
rs9402349 		1.000 0.080 6 131863968 intron variant A/C snv 9.8E-02
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 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: 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: 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: 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: 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: 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
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C0005940
Disease: Bone Diseases
Bone Diseases 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1044498
rs1044498 		0.752 0.360 6 131851228 missense variant A/C;G snv 0.19
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		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: C0035078
Disease: Kidney Failure
Kidney Failure 		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: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs140248167
rs140248167 		1.000 0.040 6 131875849 missense variant A/G snv 1.2E-05 1.4E-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: rs147346173
rs147346173 		1.000 0.040 6 131884949 missense variant A/G snv 1.2E-04 2.7E-04
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: rs370184526
rs370184526 		0.925 0.200 6 131884994 missense variant A/G snv 7.6E-05 6.3E-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: rs370184526
rs370184526 		0.925 0.200 6 131884994 missense variant A/G snv 7.6E-05 6.3E-05
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 1.000 3 2010 2015
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