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: rs11202592
rs11202592
5 0.851 0.200 10 87864461 5 prime UTR variant C/G snv 3.8E-03 1.4E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs1337503417
rs1337503417
12 0.790 0.160 17 41612325 missense variant G/T snv 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs143292359
rs143292359
1 11 116790285 missense variant G/A snv 5.9E-04 5.0E-04 0.010 < 0.001 1 2008 2008
dbSNP: rs1801177
rs1801177
LPL
14 0.742 0.240 8 19948197 missense variant G/A;C snv 1.4E-02; 2.0E-05 0.010 < 0.001 1 2000 2000
dbSNP: rs3856806
rs3856806
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 < 0.001 1 2012 2012
dbSNP: rs1800206
rs1800206
35 0.641 0.640 22 46218377 missense variant C/G snv 4.3E-02 4.2E-02 0.020 0.500 2 2004 2012
dbSNP: rs268
rs268
LPL
41 0.637 0.480 8 19956018 missense variant A/G snv 1.3E-02 1.3E-02 0.060 0.667 6 1995 2000
dbSNP: rs267606661
rs267606661
10 0.763 0.120 19 44909101 missense variant C/G;T snv 3.9E-04; 1.0E-05 0.030 0.667 3 1993 1997
dbSNP: rs11542041
rs11542041
23 0.677 0.480 19 44908690 missense variant C/A;T snv 2.1E-05 0.040 0.750 4 1984 2004
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.820 0.750 4 2010 2016
dbSNP: rs429358
rs429358
66 0.590 0.600 19 44908684 missense variant T/C snv 0.14 0.16 0.040 0.750 4 1993 2004
dbSNP: rs2075291
rs2075291
15 0.752 0.400 11 116790676 missense variant C/A;T snv 6.4E-03; 4.0E-06 0.080 1.000 8 2003 2018
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.830 1.000 6 2010 2019
dbSNP: rs3135506
rs3135506
26 0.708 0.400 11 116791691 missense variant G/A;C snv 3.0E-05; 6.8E-02 0.050 1.000 5 2007 2012
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.730 1.000 4 2010 2017
dbSNP: rs118204057
rs118204057
LPL
16 0.732 0.400 8 19954222 missense variant G/A;C snv 1.9E-04 0.030 1.000 3 1998 2020
dbSNP: rs118204060
rs118204060
LPL
9 0.807 0.160 8 19954279 missense variant C/T snv 4.0E-05 1.4E-05 0.030 1.000 3 2002 2007
dbSNP: rs1799883
rs1799883
36 0.658 0.440 4 119320747 missense variant T/A;C;G snv 0.73 0.030 1.000 3 2006 2016
dbSNP: rs371282890
rs371282890
LPL
6 0.827 0.120 8 19955900 missense variant C/G snv 1.1E-04 6.3E-05 0.030 1.000 3 2000 2016
dbSNP: rs773891125
rs773891125
LPL
6 0.827 0.120 8 19955896 frameshift variant CT/- delins 0.030 1.000 3 2000 2016
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.020 1.000 2 2001 2010
dbSNP: rs149808404
rs149808404
1 11 116790406 stop gained G/A;C snv 4.1E-05; 8.1E-06 0.020 1.000 2 2014 2019
dbSNP: rs17145738
rs17145738
11 0.851 0.200 7 73568544 3 prime UTR variant C/T snv 0.11 0.710 1.000 2 2014 2017
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2006 2013
dbSNP: rs267606664
rs267606664
5 0.851 0.120 19 44908730 missense variant G/A;C snv 1.6E-04; 6.3E-06 0.020 1.000 2 1984 1997