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: 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: 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: 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: 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: 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: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.010 1.000 1 2016 2016
dbSNP: rs8192678
rs8192678
PPARGC1A
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.010 1.000 1 2010 2010
dbSNP: rs1801282
rs1801282
PPARG
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.090 1.000 9 1999 2013
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.090 1.000 9 1999 2013
dbSNP: rs2920502
rs2920502
PPARG
6 0.851 0.160 3 12287696 intron variant G/C snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs1232898090
rs1232898090
PPARA
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1057515572
rs1057515572
PMS2
8 0.882 0.200 7 5987033 frameshift variant GC/ACT delins 0.700 1.000 1 2007 2007
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: rs3732581
rs3732581
PARL
9 0.790 0.120 3 183840614 missense variant C/G;T snv 0.46; 1.2E-05 0.010 1.000 1 2009 2009
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: 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: rs4925663
rs4925663
OR2B11
2 0.925 0.040 1 247451315 missense variant C/T snv 0.41 0.35 0.010 1.000 1 2019 2019
dbSNP: rs2918419
rs2918419
NR3C1
2 0.925 0.040 5 143342788 intron variant T/C snv 0.15 0.010 1.000 1 2008 2008
dbSNP: rs56149945
rs56149945
NR3C1
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs12143966
rs12143966
NLRP3
2 1.000 0.040 1 247438055 intron variant G/A snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs1016862
rs1016862
MC4R
1 1.000 0.040 18 60371844 missense variant A/C snv 0.010 1.000 1 2009 2009
dbSNP: rs121913564
rs121913564
MC4R
3 0.882 0.080 18 60371403 missense variant A/C snv 2.0E-05 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs1316381133
rs1316381133
MC4R
1 1.000 0.040 18 60371445 missense variant T/A snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs746906443
rs746906443
MC4R
2 0.925 0.080 18 60371868 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012