Disease: Hypoglycemia, leucine-induced
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
rs72559734
ABCC8
0.807 0.160 11 17474955 missense variant C/A;T snv 4.0E-06; 8.0E-06 6
rs1554948310
ABCC8
0.827 0.160 11 17474884 splice donor variant A/G snv 5
rs72559715
ABCC8
0.827 0.160 11 17394379 missense variant C/T snv 7.0E-06 5