INS, insulin, 3630

N. diseases: 405; N. variants: 37
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: rs80356666
rs80356666 		1.000 0.080 11 2160845 missense variant A/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356668
rs80356668 		0.925 0.080 11 2160829 missense variant A/C;G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356668
rs80356668 		0.925 0.080 11 2160829 missense variant A/C;G snv
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs121908273
rs121908273 		1.000 0.080 11 2160868 missense variant A/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 2 2007 2008
dbSNP: rs886037863
rs886037863 		1.000 0.080 11 2160847 missense variant A/G snv
CUI: C3150617
Disease: Maturity-onset diabetes of the young, type 10
Maturity-onset diabetes of the young, type 10 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs689
rs689 		0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.790 1.000 12 2009 2019
dbSNP: rs689
rs689 		0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.720 1.000 3 2016 2019
dbSNP: rs689
rs689 		0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
CUI: C1960272
Disease: Latent autoimmune diabetes mellitus in adult
Latent autoimmune diabetes mellitus in adult 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.020 1.000 2 2008 2019
dbSNP: rs689
rs689 		0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
CUI: C1739108
Disease: Latent Autoimmune Diabetes in Adults
Latent Autoimmune Diabetes in Adults 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.710 1.000 2 2018 2019
dbSNP: rs689
rs689 		0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011
dbSNP: rs689
rs689 		0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs689
rs689 		0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2009 2009
dbSNP: rs689
rs689 		0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs689
rs689 		0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60
CUI: C1332166
Disease: Adenocarcinoma of the gastroesophageal junction
Adenocarcinoma of the gastroesophageal junction 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs80356667
rs80356667 		1.000 0.080 11 2160832 missense variant C/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356670
rs80356670 		1.000 0.080 11 2159917 missense variant C/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs121918102
rs121918102 		1.000 0.080 11 2159911 missense variant C/A snv
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs28933985
rs28933985 		1.000 0.080 11 2159919 missense variant C/A;G;T snv 4.4E-06
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.840 1.000 7 1985 2010
dbSNP: rs397515521
rs397515521 		1.000 0.080 11 2160969 start lost C/A;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs80356664
rs80356664 		0.882 0.120 11 2160878 missense variant C/G;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs80356671
rs80356671 		1.000 0.080 11 2159898 missense variant C/G;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2007 2008
dbSNP: rs3842748
rs3842748 		0.925 0.200 11 2160165 intron variant C/G;T snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3842748
rs3842748 		0.925 0.200 11 2160165 intron variant C/G;T snv
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs80356664
rs80356664 		0.882 0.120 11 2160878 missense variant C/G;T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs80356664
rs80356664 		0.882 0.120 11 2160878 missense variant C/G;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2019 2019