SLC16A1, solute carrier family 16 member 1, 6566

N. diseases: 195; N. variants: 15
Disease: Hyperinsulinemic hypoglycemia, familial, 7 ×
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: rs387906403
rs387906403 		1.000 0.040 1 112956192 5 prime UTR variant C/T snv
CUI: C1864902
Disease: Hyperinsulinemic hypoglycemia, familial, 7
Hyperinsulinemic hypoglycemia, familial, 7 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231172
rs606231172 		1.000 0.040 1 112956380 intron variant -/CCCCACCCCGCCACGTGACCGGCGT ins
CUI: C1864902
Disease: Hyperinsulinemic hypoglycemia, familial, 7
Hyperinsulinemic hypoglycemia, familial, 7 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231310
rs606231310 		0.925 0.040 1 112917424 stop gained G/A snv 4.0E-06
CUI: C1864902
Disease: Hyperinsulinemic hypoglycemia, familial, 7
Hyperinsulinemic hypoglycemia, familial, 7 		Nutritional and Metabolic Diseases 0.700 0