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: rs10010131
rs10010131
WFS1
7 0.827 0.120 4 6291188 intron variant A/G snv 0.66 0.63 0.010 1.000 1 2008 2008
dbSNP: rs1004446
rs1004446
IGF2 ; IGF2-AS ; INS-IGF2
7 0.827 0.240 11 2148913 intron variant G/A snv 0.37 0.010 1.000 1 2017 2017
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs10084572
rs10084572
LOC105372829
3 1.000 0.040 21 43992991 downstream gene variant T/A;C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs10116772
rs10116772
GLIS3
4 0.882 0.080 9 4290541 intron variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1013773109
rs1013773109
GRB14
2 1.000 0.040 2 164497436 missense variant T/C snv 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs1020608562
rs1020608562
CCR5 ; CCR5AS
9 0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1022113606
rs1022113606
SOD3
17 0.732 0.280 4 24800161 missense variant G/C snv 1.6E-04 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs10224002
rs10224002
PRKAG2
12 0.925 0.080 7 151717955 intron variant A/G snv 0.31 0.700 1.000 1 2018 2018
dbSNP: rs10224210
rs10224210
PRKAG2
9 1.000 0.040 7 151716108 intron variant T/C snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs1024611
rs1024611 		63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.020 1.000 2 2016 2018
dbSNP: rs1033656351
rs1033656351
P2RX4
7 0.827 0.160 12 121232997 missense variant G/A snv 1.6E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs1036483919
rs1036483919
GCK
4 0.925 0.080 7 44151050 missense variant A/G snv 4.0E-06 0.020 1.000 2 2014 2016
dbSNP: rs1036915
rs1036915
NTRK2
2 1.000 0.040 9 84822934 intron variant A/G snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs1037733674
rs1037733674
GCG ; LOC101929532
5 0.882 0.120 2 162147429 missense variant T/C snv 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs10401969
rs10401969
SUGP1
25 0.776 0.240 19 19296909 intron variant T/C snv 0.10 0.700 1.000 1 2016 2016
dbSNP: rs1042488900
rs1042488900
ATF6
2 1.000 0.040 1 161802188 synonymous variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 0.667 3 2014 2017
dbSNP: rs1042615
rs1042615
AVPR1A
2 1.000 0.040 12 63150429 missense variant A/C;G;T snv 0.60; 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs1042713
rs1042713
ADRB2
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.010 1.000 1 2012 2012
dbSNP: rs1042714
rs1042714
ADRB2
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2001 2001
dbSNP: rs1044250
rs1044250
ANGPTL4
12 0.807 0.240 19 8371280 missense variant C/T snv 0.30 0.29 0.010 1.000 1 2008 2008
dbSNP: rs1044498
rs1044498
ENPP1
15 0.752 0.360 6 131851228 missense variant A/C;G snv 0.19 0.010 1.000 1 2011 2011
dbSNP: rs10455872
rs10455872
LPA
33 0.662 0.320 6 160589086 intron variant A/G snv 4.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs1047891
rs1047891
CPS1
34 0.827 0.200 2 210675783 missense variant C/A snv 0.30 0.33 0.700 1.000 1 2019 2019