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: rs628031
rs628031
SLC22A1
8 0.807 0.280 6 160139813 missense variant A/C;G snv 5.3E-05; 0.63 0.010 1.000 1 2019 2019
dbSNP: rs683369
rs683369
SLC22A1
7 0.807 0.360 6 160130172 missense variant G/A;C;T snv 4.0E-06; 0.83; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs9402571
rs9402571 		4 0.882 0.080 6 134167822 downstream gene variant T/G snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs1057515572
rs1057515572
PMS2
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
dbSNP: rs13266634
rs13266634
SLC30A8 ; LOC105375716
23 0.724 0.480 8 117172544 missense variant C/A;T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.010 1.000 1 1996 1996
dbSNP: rs35568725
rs35568725
PLIN2
3 0.925 0.080 9 19119676 missense variant A/G snv 4.1E-02 4.0E-02 0.010 1.000 1 2016 2016
dbSNP: rs121909730
rs121909730
GLUD1
4 0.882 0.040 10 87053380 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs121909731
rs121909731
GLUD1
7 0.851 0.120 10 87057692 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs137852671
rs137852671
ABCC8
10 0.790 0.160 11 17394295 missense variant C/T snv 0.020 1.000 2 2003 2011
dbSNP: rs146695489
rs146695489
ABCC8
2 0.925 0.160 11 17470170 missense variant T/C snv 2.5E-04 5.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs148969251
rs148969251
ARHGEF12
1 1.000 0.040 11 120480110 missense variant A/G snv 3.3E-02 1.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs1057518775
rs1057518775
KCNJ11
4 0.851 0.160 11 17387907 missense variant G/A;C snv 0.700 0
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: rs11171806
rs11171806
IL23A
7 0.807 0.360 12 56339747 synonymous variant G/A snv 4.9E-02 4.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs1718119
rs1718119
P2RX7 ; LOC105370032
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs2014355
rs2014355
ACADS
4 0.925 0.120 12 120737721 non coding transcript exon variant T/C snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs2066808
rs2066808
STAT2
8 0.807 0.280 12 56344189 intron variant A/G snv 0.21 0.010 1.000 1 2019 2019
dbSNP: rs2288377
rs2288377
IGF1 ; LOC105369944
2 0.925 0.080 12 102480984 intron variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs373115603
rs373115603
SDS
1 1.000 0.040 12 113398557 missense variant G/A snv 1.3E-05 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs5742612
rs5742612
IGF1 ; LOC105369944
11 0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02 0.010 1.000 1 2017 2017
dbSNP: rs776234219
rs776234219
IGF1 ; LINC02456
1 1.000 0.040 12 102419531 missense variant G/A snv 1.6E-05 3.5E-05 0.010 1.000 1 2013 2013
dbSNP: rs587777260
rs587777260
TBC1D4
2 0.925 0.080 13 75359852 stop gained G/A;T snv 4.0E-06 0.020 1.000 2 2009 2013
dbSNP: rs225014
rs225014
DIO2
22 0.695 0.400 14 80203237 missense variant T/C snv 0.41 0.39 0.010 1.000 1 2010 2010
dbSNP: rs225017
rs225017
DIO2
2 0.925 0.080 14 80200883 3 prime UTR variant A/T snv 0.58 0.010 1.000 1 2014 2014