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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.730 1.000 4 2008 2018
dbSNP: rs316019
rs316019
SLC22A2
8 0.790 0.360 6 160249250 missense variant A/C snv 0.90 0.89 0.020 1.000 2 2010 2015
dbSNP: rs2084202
rs2084202
DBI ; C2orf76
1 1.000 0.080 2 119367453 missense variant A/G;T snv 0.84; 1.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs707555
rs707555
PCK1
1 1.000 0.080 20 57562839 missense variant G/C;T snv 0.84 0.020 1.000 2 2009 2019
dbSNP: rs2970847
rs2970847
PPARGC1A
3 0.882 0.200 4 23814301 synonymous variant T/C snv 0.84 0.86 0.040 1.000 4 2007 2018
dbSNP: rs2057482
rs2057482
HIF1A ; HIF1A-AS2 ; HIF1A-AS3
21 0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 0.010 1.000 1 2014 2014
dbSNP: rs767870
rs767870
ADIPOR2
4 0.882 0.120 12 1780657 intron variant G/A;C snv 0.82 0.010 1.000 1 2006 2006
dbSNP: rs6414624
rs6414624
EVC
1 1.000 0.080 4 5741785 missense variant T/C snv 0.80; 8.0E-06 0.72 0.010 1.000 1 2019 2019
dbSNP: rs1800972
rs1800972
DEFB1
16 0.708 0.440 8 6877901 5 prime UTR variant C/G;T snv 0.79 0.010 1.000 1 2019 2019
dbSNP: rs560887
rs560887
SPC25 ; G6PC2
18 0.827 0.120 2 168906638 intron variant T/C snv 0.79 0.80 0.030 1.000 3 2009 2017
dbSNP: rs516946
rs516946
ANK1 ; MIR486-1
1 1.000 0.080 8 41661730 non coding transcript exon variant T/A;C snv 0.78 0.820 1.000 6 2012 2018
dbSNP: rs1801212
rs1801212
WFS1
1 1.000 0.080 4 6300792 missense variant G/A;C;T snv 0.78 0.700 1.000 2 2018 2019
dbSNP: rs515071
rs515071
ANK1 ; MIR486-1
1 1.000 0.080 8 41661944 splice region variant A/G;T snv 0.78 0.840 1.000 4 2012 2017
dbSNP: rs1071592
rs1071592
AHSG
1 1.000 0.080 3 186620636 synonymous variant A/C snv 0.76 0.77 0.020 1.000 2 2005 2009
dbSNP: rs2073721
rs2073721
TCF19
1 1.000 0.080 6 31161839 missense variant A/G snv 0.75 0.78 0.700 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.100 0.944 18 2000 2019
dbSNP: rs1926447
rs1926447
CPB2 ; CPB2-AS1
11 0.807 0.440 13 46055809 missense variant A/G snv 0.74 0.77 0.010 1.000 1 2015 2015
dbSNP: rs712701
rs712701
PAX4
1 1.000 0.080 7 127611134 missense variant T/G snv 0.73 0.75 0.010 < 0.001 1 2016 2016
dbSNP: rs689
rs689
INS ; INS-IGF2
9 0.776 0.280 11 2160994 splice region variant A/T snv 0.73 0.60 0.720 1.000 3 2016 2019
dbSNP: rs4077129
rs4077129
PIM3 ; MIR6821
1 1.000 0.080 22 49963045 missense variant T/C snv 0.73; 4.1E-06 0.75 0.700 1.000 1 2018 2018
dbSNP: rs1788799
rs1788799
NPC1
2 1.000 0.080 18 23544981 missense variant C/A;G;T snv 4.2E-06; 0.73 0.010 1.000 1 2012 2012
dbSNP: rs1799883
rs1799883
FABP2
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.100 0.850 20 1999 2017
dbSNP: rs2306617
rs2306617
ALDH7A1
1 1.000 0.080 5 126551993 intron variant C/G;T snv 0.71 0.010 1.000 1 2010 2010
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.040 0.750 4 2015 2018
dbSNP: rs2230808
rs2230808
ABCA1
6 0.827 0.240 9 104800523 missense variant T/C snv 0.71 0.60 0.010 1.000 1 2008 2008