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: rs79874540
rs79874540
HTR2B ; PSMD1
4 0.925 0.080 2 231123707 stop gained G/A snv 1.5E-03 1.2E-03 0.010 1.000 1 2016 2016
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: 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: 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: rs866477740
rs866477740
IGFALS ; SPSB3
1 1.000 0.040 16 1792152 missense variant A/G snv 0.010 1.000 1 2013 2013
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: rs1003887
rs1003887
INSL3
3 0.882 0.240 19 17816591 3 prime UTR variant C/T snv 0.69 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: rs1057518775
rs1057518775
KCNJ11
4 0.851 0.160 11 17387907 missense variant G/A;C snv 0.700 0
dbSNP: rs11575937
rs11575937
LMNA
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.030 1.000 3 2000 2000
dbSNP: rs80356814
rs80356814
LMNA
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs33997857
rs33997857
LPIN1
1 1.000 0.040 2 11787112 missense variant G/A;T snv 1.6E-02 0.010 1.000 1 2010 2010
dbSNP: rs6708316
rs6708316
LPIN1
2 0.925 0.080 2 11797032 intron variant G/C;T snv 0.010 1.000 1 2010 2010
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: 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
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: 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: 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: 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: 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: 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