TBC1D4, TBC1 domain family member 4, 9882

N. diseases: 17; N. variants: 12
Disease: Hyperinsulinism ×
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: rs587777260
rs587777260 		0.925 0.080 13 75359852 stop gained G/A;T snv 4.0E-06
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.020 1.000 2 2009 2013