Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1272388614
rs1272388614
ABCC8
5 0.851 0.080 11 17395658 missense variant C/T snv 2.4E-05 3.5E-05 0.010 1.000 1 2015 2015
dbSNP: rs137852671
rs137852671
ABCC8
10 0.790 0.160 11 17394295 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1383147053
rs1383147053
DLD
4 0.882 0.120 7 107901762 missense variant G/A snv 0.010 1.000 1 2005 2005
dbSNP: rs1446306735
rs1446306735
ABCC8
3 0.882 0.120 11 17395664 missense variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs146488435
rs146488435
KCNH6
5 0.851 0.080 17 63533914 missense variant C/G;T snv 8.0E-06; 6.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs1799821
rs1799821
CPT2
8 0.827 0.200 1 53210776 missense variant G/A snv 0.49 0.46 0.010 1.000 1 1992 1992
dbSNP: rs1799822
rs1799822
CPT2
4 0.925 0.080 1 53213557 missense variant A/G snv 0.16 0.15 0.010 1.000 1 1992 1992
dbSNP: rs1799958
rs1799958
ACADS
4 0.882 0.160 12 120738280 missense variant G/A snv 0.26 0.21 0.010 1.000 1 2002 2002
dbSNP: rs2289669
rs2289669
SLC47A1 ; LOC105371578
2 0.925 0.080 17 19560030 intron variant G/A snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs28936375
rs28936375
CPT2
15 0.752 0.320 1 53197092 missense variant C/A snv 1.7E-04 2.2E-04 0.010 1.000 1 2002 2002
dbSNP: rs373345919
rs373345919
G6PC
5 0.882 0.080 17 42909364 stop gained C/T snv 2.8E-05 2.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs386834264
rs386834264
CACNA1D
2 0.925 0.040 3 53673804 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs387906659
rs387906659
AKT2
14 0.742 0.280 19 40257052 stop gained C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4149117
rs4149117
SLCO1B3 ; SLCO1B3-SLCO1B7
15 0.763 0.360 12 20858546 missense variant T/C;G snv 0.81 0.010 < 0.001 1 2017 2017
dbSNP: rs74315293
rs74315293
CPT2
5 0.851 0.200 1 53213509 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 1992 1992
dbSNP: rs757075712
rs757075712
TFAM
15 0.763 0.200 10 58390856 missense variant C/T snv 1.6E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs781007453
rs781007453
INSR
2 0.925 0.160 19 7184524 missense variant G/A;C snv 8.0E-06; 4.0E-06 0.010 1.000 1 2015 2015