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: rs4994
rs4994
65 0.578 0.640 8 37966280 missense variant A/G snv 0.11 9.2E-02 0.020 1.000 2 2001 2016
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs8192678
rs8192678
28 0.667 0.440 4 23814039 missense variant C/T snv 0.31 0.26 0.020 1.000 2 2006 2018
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 2006 2006
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.020 1.000 2 2007 2014
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2007 2007
dbSNP: rs1917760
rs1917760
1 7 143262206 intron variant G/A;T snv 1.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.040 0.750 4 2010 2016
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.020 1.000 2 2010 2019
dbSNP: rs2016520
rs2016520
16 0.752 0.320 6 35411001 5 prime UTR variant C/T snv 0.78 0.010 1.000 1 2010 2010
dbSNP: rs80356814
rs80356814
15 0.732 0.320 1 156138697 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2012 2012
dbSNP: rs1799904
rs1799904
2 1.000 0.080 5 96429259 missense variant C/A;T snv 4.0E-06; 2.1E-03 0.010 1.000 1 2013 2013
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2013 2013
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4988235
rs4988235
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs11066280
rs11066280
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.010 1.000 1 2014 2014
dbSNP: rs11635252
rs11635252
4 0.925 0.080 15 90528542 upstream gene variant T/C snv 0.88 0.010 1.000 1 2014 2014
dbSNP: rs1431648262
rs1431648262
2 8 26756585 3 prime UTR variant G/C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs17249754
rs17249754
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2014 2014
dbSNP: rs267606841
rs267606841
5 0.882 0.120 2 165749801 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs3862434
rs3862434
3 1.000 0.080 15 90537155 intron variant A/G snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs7076156
rs7076156
3 0.925 0.120 10 62655424 missense variant A/C;G snv 0.80 0.010 1.000 1 2014 2014