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: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.020 1.000 2 2008 2011
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs1557043622
rs1557043622
SLC35A2
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs5219
rs5219
KCNJ11
25 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.040 0.500 4 2005 2019
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
35 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs587782995
rs587782995
PURA
42 0.708 0.360 5 140114480 missense variant T/C snv 0.700 0
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: 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: rs146539065
rs146539065
SEPSECS
34 0.752 0.240 4 25145092 synonymous variant C/T snv 2.8E-05 4.2E-05 0.700 0
dbSNP: rs776969714
rs776969714
SEPSECS
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
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: 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: rs137852671
rs137852671
ABCC8
10 0.790 0.160 11 17394295 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs137853238
rs137853238
HNF1A
6 0.807 0.200 12 120994265 missense variant G/A snv 0.020 1.000 2 2011 2011
dbSNP: rs1801175
rs1801175
G6PC
8 0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04 0.700 0
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: rs372949028
rs372949028
TANGO2
13 0.827 0.240 22 20061684 splice donor variant G/A;C snv 7.1E-05 5.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs869025222
rs869025222
RARB
9 0.827 0.240 3 25580574 missense variant T/C snv 0.700 0
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: 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: 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: rs1057518775
rs1057518775
KCNJ11
4 0.851 0.160 11 17387907 missense variant G/A;C snv 0.700 0