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: rs13702
rs13702
LPL
7 0.925 0.160 8 19966981 3 prime UTR variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1412189378
rs1412189378
1 1.000 0.040 4 99583404 missense variant C/A snv 0.010 1.000 1 2009 2009
dbSNP: rs143392071
rs143392071
1 1.000 0.040 22 43933050 missense variant A/G snv 7.2E-04 2.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs1492100
rs1492100
1 1.000 0.040 3 148719640 intron variant T/A snv 0.34 0.010 1.000 1 2019 2019
dbSNP: rs1554483
rs1554483
5 0.882 0.160 4 55455650 intron variant C/G snv 0.33 0.010 1.000 1 2007 2007
dbSNP: rs16996148
rs16996148
8 0.882 0.120 19 19547663 downstream gene variant G/T snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs17107315
rs17107315
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2009 2009
dbSNP: rs17120035
rs17120035
1 1.000 0.040 11 116793135 upstream gene variant C/T snv 6.4E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs17222723
rs17222723
2 0.925 0.080 10 99836239 missense variant T/A snv 4.5E-02 5.5E-02 0.010 1.000 1 2009 2009
dbSNP: rs17618244
rs17618244
KLB
2 0.925 0.040 4 39446909 missense variant G/A snv 0.18 0.16 0.010 1.000 1 2020 2020
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.010 1.000 1 2014 2014
dbSNP: rs17883901
rs17883901
6 0.851 0.240 6 53545239 intron variant G/A;T snv 6.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.010 1.000 1 2010 2010
dbSNP: rs1800206
rs1800206
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs1800234
rs1800234
6 0.807 0.240 22 46219983 missense variant T/A;C snv 4.0E-06; 1.1E-02 0.010 1.000 1 2008 2008
dbSNP: rs1800730
rs1800730
32 0.649 0.480 6 26090957 missense variant A/T snv 1.0E-02 1.0E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs1800777
rs1800777
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs1800804
rs1800804
1 1.000 0.040 4 99574660 intron variant T/C snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs1805074
rs1805074
1 1.000 0.040 5 79028529 missense variant A/G snv 0.27 0.33 0.010 1.000 1 2017 2017
dbSNP: rs1805094
rs1805094
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1805096
rs1805096
6 0.827 0.200 1 65636574 synonymous variant G/A snv 0.46 0.43 0.010 1.000 1 2009 2009
dbSNP: rs1858999
rs1858999
1 1.000 0.040 19 19386860 intron variant C/G snv 0.56 0.010 1.000 1 2016 2016
dbSNP: rs200848339
rs200848339
1 1.000 0.040 9 117713001 synonymous variant A/G snv 2.4E-05 0.010 1.000 1 2016 2016