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: rs5219
rs5219 		0.701 0.360 11 17388025 stop gained T/A;C snv 0.64
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.900 0.906 64 1998 2019
dbSNP: rs5215
rs5215 		0.827 0.160 11 17387083 missense variant C/T snv 0.64 0.71
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.860 0.941 17 2007 2018
dbSNP: rs80356618
rs80356618 		0.807 0.200 11 17387595 missense variant C/A;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 14 2004 2017
dbSNP: rs80356624
rs80356624 		0.752 0.240 11 17387490 missense variant C/A;T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 14 2004 2017
dbSNP: rs193929337
rs193929337 		0.827 0.160 11 17387937 missense variant T/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 13 2004 2017
dbSNP: rs80356611
rs80356611 		0.790 0.240 11 17387943 missense variant C/A;G;T snv 4.0E-06
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 13 2004 2017
dbSNP: rs80356617
rs80356617 		0.882 0.160 11 17387916 missense variant A/C snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.810 1.000 13 2004 2017
dbSNP: rs587783672
rs587783672 		0.882 0.080 11 17387413 missense variant C/T snv 4.0E-06
CUI: C4225365
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 		0.810 1.000 2 2012 2017
dbSNP: rs74339576
rs74339576 		0.882 0.160 11 17387190 missense variant C/A;T snv 4.0E-06; 1.2E-05
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 17 1995 2013
dbSNP: rs193929333
rs193929333 		1.000 0.080 11 17387989 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 13 2004 2017
dbSNP: rs193929353
rs193929353 		0.882 0.120 11 17387206 missense variant T/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 13 2004 2017
dbSNP: rs80356615
rs80356615 		0.851 0.240 11 17387934 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 13 2004 2017
dbSNP: rs80356616
rs80356616 		0.732 0.360 11 17387917 missense variant C/T snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 13 2004 2017
dbSNP: rs80356620
rs80356620 		0.882 0.160 11 17387593 missense variant T/G snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 13 2004 2017
dbSNP: rs80356621
rs80356621 		1.000 0.080 11 17387583 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 13 2004 2017
dbSNP: rs80356622
rs80356622 		1.000 0.080 11 17387582 missense variant 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 13 2004 2017
dbSNP: rs80356625
rs80356625 		0.827 0.280 11 17387491 missense variant G/A snv
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 13 2004 2017
dbSNP: rs104894237
rs104894237 		1.000 0.120 11 17387331 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 12 1995 2009
dbSNP: rs104894248
rs104894248 		1.000 0.120 11 17387316 missense variant T/C snv 4.4E-05 1.4E-05
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 12 1995 2009
dbSNP: rs1404429785
rs1404429785 		1.000 0.120 11 17387626 missense variant C/T snv
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 12 1995 2009
dbSNP: rs267607196
rs267607196 		0.827 0.160 11 17387248 missense variant C/T snv 2.4E-05 2.8E-05
CUI: C2931833
Disease: Hyperinsulinemic hypoglycemia, familial, 2
Hyperinsulinemic hypoglycemia, familial, 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 12 1995 2009
dbSNP: rs2074314
rs2074314 		1.000 0.080 11 17390274 upstream gene variant C/T snv 0.72
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2011 2019
dbSNP: rs80356610
rs80356610 		0.827 0.080 11 17387968 missense variant A/G snv
CUI: C1864623
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2005 2005
dbSNP: rs80356613
rs80356613 		0.925 0.080 11 17387935 missense variant C/G;T snv
CUI: C1864623
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2005 2005
dbSNP: rs587783672
rs587783672 		0.882 0.080 11 17387413 missense variant C/T snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.720 1.000 2 2007 2012