SLC2A4, solute carrier family 2 member 4, 6517

N. diseases: 158; N. variants: 7
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: rs121434581
rs121434581 		1.000 0.080 17 7285729 missense variant G/A;C snv 4.2E-03; 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 5 1991 2013
dbSNP: rs2073476
rs2073476 		17 7280666 upstream gene variant G/A snv 4.1E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5417
rs5417 		1.000 0.080 17 7281743 5 prime UTR variant C/A;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs5418
rs5418 		1.000 0.040 17 7281773 5 prime UTR variant G/A snv 0.49
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs5417
rs5417 		1.000 0.080 17 7281743 5 prime UTR variant C/A;T snv
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5418
rs5418 		1.000 0.040 17 7281773 5 prime UTR variant G/A snv 0.49
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs5418
rs5418 		1.000 0.040 17 7281773 5 prime UTR variant G/A snv 0.49
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs5421
rs5421 		1.000 0.040 17 7285694 intron variant C/G snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs5421
rs5421 		1.000 0.040 17 7285694 intron variant C/G snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs5435
rs5435 		0.851 0.200 17 7283804 missense variant T/A;C snv 0.65
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs5435
rs5435 		0.851 0.200 17 7283804 missense variant T/A;C snv 0.65
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs5435
rs5435 		0.851 0.200 17 7283804 missense variant T/A;C snv 0.65
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 2019 2019
dbSNP: rs5435
rs5435 		0.851 0.200 17 7283804 missense variant T/A;C snv 0.65
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs5435
rs5435 		0.851 0.200 17 7283804 missense variant T/A;C snv 0.65
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 2011 2011
dbSNP: rs5435
rs5435 		0.851 0.200 17 7283804 missense variant T/A;C snv 0.65
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs775018856
rs775018856 		1.000 0.080 17 7283304 synonymous variant G/A snv 2.8E-05 1.4E-05
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs775018856
rs775018856 		1.000 0.080 17 7283304 synonymous variant G/A snv 2.8E-05 1.4E-05
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017