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: rs104894236
rs104894236 		1.000 0.120 11 17388056 stop gained G/A;T snv 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 0.700 0
dbSNP: rs1057518775
rs1057518775 		0.851 0.160 11 17387907 missense variant G/A;C snv
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1057518775
rs1057518775 		0.851 0.160 11 17387907 missense variant G/A;C snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057518775
rs1057518775 		0.851 0.160 11 17387907 missense variant G/A;C snv
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057518775
rs1057518775 		0.851 0.160 11 17387907 missense variant G/A;C snv
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.700 0
dbSNP: rs115716690
rs115716690 		1.000 0.080 11 17387902 missense variant C/A snv 4.8E-05 9.8E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1337406718
rs1337406718 		0.882 0.160 11 17387027 frameshift variant -/A delins
CUI: C1864623
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1337406718
rs1337406718 		0.882 0.160 11 17387027 frameshift variant -/A delins
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1337406718
rs1337406718 		0.882 0.160 11 17387027 frameshift variant -/A delins
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 0.700 0
dbSNP: rs1343400778
rs1343400778 		1.000 0.120 11 17387927 missense variant G/T snv 4.0E-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 0.700 0
dbSNP: rs1554901596
rs1554901596 		0.925 0.080 11 17387124 frameshift variant -/C delins
CUI: C4225365
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13 		0.700 0
dbSNP: rs1554901596
rs1554901596 		0.925 0.080 11 17387124 frameshift variant -/C delins
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554901690
rs1554901690 		0.882 0.160 11 17387320 frameshift variant -/GATGATC delins
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 0.700 0
dbSNP: rs1554901690
rs1554901690 		0.882 0.160 11 17387320 frameshift variant -/GATGATC delins
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554901690
rs1554901690 		0.882 0.160 11 17387320 frameshift variant -/GATGATC delins
CUI: C1864623
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554901718
rs1554901718 		0.882 0.160 11 17387373 frameshift variant -/T delins
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 0.700 0
dbSNP: rs1554901718
rs1554901718 		0.882 0.160 11 17387373 frameshift variant -/T delins
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554901718
rs1554901718 		0.882 0.160 11 17387373 frameshift variant -/T delins
CUI: C1864623
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554901822
rs1554901822 		1.000 0.040 11 17387723 frameshift variant -/A delins
CUI: C4303593
Disease: DEND syndrome
DEND syndrome 		Nervous System Diseases 0.700 0
dbSNP: rs1554901829
rs1554901829 		0.882 0.160 11 17387726 frameshift variant AAGG/- delins
CUI: C1864623
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554901829
rs1554901829 		0.882 0.160 11 17387726 frameshift variant AAGG/- delins
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 0.700 0
dbSNP: rs1554901829
rs1554901829 		0.882 0.160 11 17387726 frameshift variant AAGG/- delins
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554901854
rs1554901854 		0.882 0.160 11 17387801 frameshift variant -/T delins
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554901854
rs1554901854 		0.882 0.160 11 17387801 frameshift variant -/T delins
CUI: C1864623
Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 0
dbSNP: rs1554901854
rs1554901854 		0.882 0.160 11 17387801 frameshift variant -/T delins
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 0.700 0