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
rs56149945
NR3C1
0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 49
rs2241766
ADIPOQ ; ADIPOQ-AS1
0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 48
rs11575937
LMNA
0.653 0.480 1 156136985 missense variant G/A;T snv 29
rs13266634
SLC30A8 ; LOC105375716
0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 23
rs146488435
KCNH6
0.851 0.080 17 63533914 missense variant C/G;T snv 8.0E-06; 6.4E-05 5