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: 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: 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
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: 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: rs148685531
rs148685531 		1.000 0.080 11 2160825 missense variant G/A;C snv 3.6E-05
CUI: C0342283
Disease: Hyperproinsulinemia
Hyperproinsulinemia 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1564912403
rs1564912403 		1.000 0.080 11 2160946 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 0
dbSNP: rs397515519
rs397515519 		1.000 0.080 11 2159793 synonymous variant T/C snv 4.5E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
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: rs797045623
rs797045623 		1.000 0.080 11 2160028 intron variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
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: 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: 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: 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: rs886041083
rs886041083 		1.000 0.080 11 2160544 intron variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		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: 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: rs121908260
rs121908260 		0.851 0.160 11 2160835 missense variant C/T snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
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: rs121908260
rs121908260 		0.851 0.160 11 2160835 missense variant C/T snv
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
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: 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: 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: 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