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: rs2241766
rs2241766
0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
Nutritional and Metabolic Diseases 0.010 < 0.001 1 2010 2010
dbSNP: rs266729
rs266729
0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013