Disease: Hyperinsulinemic hypoglycemia, familial, 2
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs193922402
ABCC8
0.807 0.160 11 17395611 stop gained G/A snv 1.3E-05 7.0E-06 6
rs72559722
ABCC8
0.807 0.160 11 17412716 stop gained G/A snv 6.1E-05 2.1E-05 6
rs267607196
KCNJ11
0.827 0.160 11 17387248 missense variant C/T snv 2.4E-05 2.8E-05 5