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: C1332166
Disease: Adenocarcinoma of the gastroesophageal junction
Adenocarcinoma of the gastroesophageal junction 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 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: 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: 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: 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: rs121908261
rs121908261 		0.851 0.120 11 2160809 missense variant G/A snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; 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: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
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: rs121908261
rs121908261 		0.851 0.120 11 2160809 missense variant G/A snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3842753
rs3842753 		1.000 0.120 11 2159830 missense variant T/G 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 0.010 1.000 1 2015 2015
dbSNP: rs121908261
rs121908261 		0.851 0.120 11 2160809 missense variant G/A snv
CUI: C1852092
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 2
DIABETES MELLITUS, INSULIN-DEPENDENT, 2 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 1 2008 2008
dbSNP: rs80356664
rs80356664 		0.882 0.120 11 2160878 missense variant C/G;T snv
CUI: C1852092
Disease: DIABETES MELLITUS, INSULIN-DEPENDENT, 2
DIABETES MELLITUS, INSULIN-DEPENDENT, 2 		Nutritional and Metabolic Diseases; Immune System 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: 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: rs121908279
rs121908279 		0.925 0.080 11 2159983 missense variant G/T snv 2.5E-05 2.1E-05
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 2008 2008
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
dbSNP: rs1135401727
rs1135401727 		1.000 0.080 11 2161314 5 prime UTR variant GATGGCTGGGGGCTGAGGCTGCAA/- delins 2.1E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 2 2010 2010
dbSNP: rs121908272
rs121908272 		1.000 0.080 11 2160887 missense variant G/C 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: 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: rs121908274
rs121908274 		0.925 0.080 11 2159935 missense variant 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 2 2007 2008
dbSNP: rs121908276
rs121908276 		1.000 0.080 11 2159883 missense variant G/C 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: rs121908277
rs121908277 		1.000 0.080 11 2159877 missense variant T/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: rs1554921033
rs1554921033 		1.000 0.080 11 2161189 5 prime UTR variant T/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 2010 2011