Disease: Hyperinsulinism
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1801282
PPARG
0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 131
rs1805192
PPARG
0.510 0.840 3 12379739 missense variant C/G snv 121
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41 98
rs1232898090
PPARA
0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 40
rs17782313 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 34