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: 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: 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: rs1208845035
rs1208845035
GCK
1 1.000 0.040 7 44145270 missense variant G/A snv 0.010 1.000 1 2003 2003
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: 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: 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: 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: rs386834264
rs386834264
CACNA1D
2 0.925 0.040 3 53673804 missense variant G/A snv 0.010 1.000 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: 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: 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
dbSNP: rs113994167
rs113994167
ACADVL
3 0.882 0.240 17 7222272 missense variant T/C snv 1.3E-03 1.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs121434278
rs121434278
ACADM
3 0.882 0.120 1 75740094 missense variant G/A snv 4.0E-05 7.0E-05 0.010 1.000 1 1994 1994
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
35 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
dbSNP: rs121909730
rs121909730
GLUD1
4 0.882 0.040 10 87053380 missense variant G/A snv 0.020 1.000 2 2006 2014
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