Disease: Hyperinsulinemic hypoglycemia, familial, 2
Source: ALL
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
rs587783669
KCNJ11
0.882 0.160 11 17387594 stop gained G/C;T snv 4
rs1337406718
KCNJ11
0.882 0.160 11 17387027 frameshift variant -/A delins 3
rs1371185696
KCNJ11
0.882 0.160 11 17387532 missense variant G/A snv 7.0E-06 3
rs137852676
ABCC8
0.882 0.160 11 17395852 stop gained C/A;T snv 1.5E-05 3
rs1554901690
KCNJ11
0.882 0.160 11 17387320 frameshift variant -/GATGATC delins 3
rs1554901718
KCNJ11
0.882 0.160 11 17387373 frameshift variant -/T delins 3
rs1554901829
KCNJ11
0.882 0.160 11 17387726 frameshift variant AAGG/- delins 3
rs1554901854
KCNJ11
0.882 0.160 11 17387801 frameshift variant -/T delins 3
rs74339576
KCNJ11
0.882 0.160 11 17387190 missense variant C/A;T snv 4.0E-06; 1.2E-05 3
rs954727530
KCNJ11
0.882 0.160 11 17387992 missense variant G/A;C snv 4.0E-06 3