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: 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: 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: 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: 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: 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: 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: 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: 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: rs80356663
rs80356663 		0.925 0.120 11 2160901 missense variant G/A;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: 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: 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