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: 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: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2009 2009
dbSNP: rs80356663
rs80356663 		0.925 0.120 11 2160901 missense variant G/A;T snv
CUI: C0221505
Disease: Lesion of brain
Lesion of brain 		0.010 1.000 1 2015 2015
dbSNP: rs80356672
rs80356672 		0.925 0.120 11 2159862 missense variant T/C snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs80356663
rs80356663 		0.925 0.120 11 2160901 missense variant G/A;T snv
CUI: C0158981
Disease: Neonatal diabetes mellitus
Neonatal diabetes mellitus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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: C1332166
Disease: Adenocarcinoma of the gastroesophageal junction
Adenocarcinoma of the gastroesophageal junction 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs121908260
rs121908260 		0.851 0.160 11 2160835 missense variant C/T snv
CUI: C0021670
Disease: insulinoma
insulinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121908261
rs121908261 		0.851 0.120 11 2160809 missense variant G/A snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs121908279
rs121908279 		0.925 0.080 11 2159983 missense variant G/T snv 2.5E-05 2.1E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2008 2008
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
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: 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: rs1057524907
rs1057524907 		0.925 0.080 11 2159907 missense variant T/C snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 5 2007 2015
dbSNP: rs1564911425
rs1564911425 		0.925 0.080 11 2159895 missense variant G/C snv
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.700 1.000 5 2007 2015
dbSNP: rs121908261
rs121908261 		0.851 0.120 11 2160809 missense variant G/A snv
CUI: C0022638
Disease: Ketosis
Ketosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
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: rs1057524907
rs1057524907 		0.925 0.080 11 2159907 missense variant T/C snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 5 2007 2015
dbSNP: rs121918101
rs121918101 		1.000 0.080 11 2160872 missense variant G/C snv
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 5 1985 2010
dbSNP: rs1564911425
rs1564911425 		0.925 0.080 11 2159895 missense variant G/C 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 1.000 5 2007 2015
dbSNP: rs121908259
rs121908259 		1.000 0.080 11 2160955 missense variant C/T snv 9.3E-05 1.9E-04
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 1.000 4 2008 2014
dbSNP: rs121908260
rs121908260 		0.851 0.160 11 2160835 missense variant C/T 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 0.800 1.000 4 2008 2014
dbSNP: rs121908278
rs121908278 		1.000 0.080 11 2160956 missense variant G/A;C snv 2.8E-05; 4.1E-06
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 0.800 1.000 4 2008 2014
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: rs748749585
rs748749585 		1.000 0.080 11 2161302 5 prime UTR variant G/A;C;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 3 2010 2011