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: rs776969714
rs776969714
SEPSECS
34 0.752 0.240 4 25145129 splice acceptor variant -/C delins 4.2E-05 0.700 0
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: rs1557043622
rs1557043622
SLC35A2
46 0.695 0.400 X 48909843 missense variant C/A snv 0.700 1.000 1 2019 2019
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: 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: rs763028380
rs763028380
ABCC8
12 0.851 0.320 11 17453271 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 0
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: rs387906659
rs387906659
AKT2
14 0.742 0.280 19 40257052 stop gained C/A;T snv 0.010 1.000 1 2017 2017
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: 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: rs121918188
rs121918188
FBP1
2 0.925 0.080 9 94609998 missense variant C/T snv 2.4E-05 7.0E-06 0.010 1.000 1 2011 2011
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: 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: 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: 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: rs1344172059
rs1344172059
ABCC8
12 0.882 0.080 11 17430838 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs141322087
rs141322087
ABCC8
13 0.851 0.160 11 17404552 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
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: 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: 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: rs121909730
rs121909730
GLUD1
4 0.882 0.040 10 87053380 missense variant G/A snv 0.020 1.000 2 2006 2014
dbSNP: rs137853238
rs137853238
HNF1A
6 0.807 0.200 12 120994265 missense variant G/A snv 0.020 1.000 2 2011 2011
dbSNP: rs1208845035
rs1208845035
GCK
1 1.000 0.040 7 44145270 missense variant G/A snv 0.010 1.000 1 2003 2003