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: rs10273639
rs10273639
9 0.776 0.280 7 142749077 upstream gene variant T/A;C snv 0.820 0.667 3 2012 2020
dbSNP: rs12688220
rs12688220
5 0.827 0.200 X 107001537 upstream gene variant C/T snv 0.19 0.810 1.000 2 2012 2020
dbSNP: rs2995271
rs2995271
2 0.925 0.040 10 30230903 regulatory region variant C/T snv 0.64 0.800 1.000 1 2012 2012
dbSNP: rs379742
rs379742
1 1.000 0.040 X 106250703 intergenic variant G/A snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs7057398
rs7057398
5 0.827 0.080 X 106901299 intron variant T/C snv 0.41 0.710 1.000 2 2012 2020
dbSNP: rs12008279
rs12008279
3 0.882 0.080 X 106917472 intron variant A/G;T snv 0.700 1.000 1 2012 2012
dbSNP: rs12014762
rs12014762
3 0.882 0.080 X 106940440 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs4409525
rs4409525
2 0.925 0.040 X 106897095 intron variant G/A snv 0.28 0.700 1.000 1 2012 2012
dbSNP: rs4437130
rs4437130
2 1.000 0.040 3 2035283 intergenic variant G/A snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs5917027
rs5917027
1 1.000 0.040 X 106919404 intron variant C/A;T snv 0.700 1.000 1 2012 2012
dbSNP: rs62561366
rs62561366
2 1.000 0.040 9 95555669 intergenic variant A/T snv 3.9E-02 0.700 1.000 1 2018 2018
dbSNP: rs6622126
rs6622126
4 0.851 0.080 X 106956972 missense variant G/A snv 0.58 0.700 1.000 1 2012 2012
dbSNP: rs201893408
rs201893408
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 0
dbSNP: rs74571530
rs74571530
3 0.882 0.160 7 117559594 missense variant T/A;C;G snv 9.4E-04 0.700 0
dbSNP: rs752362727
rs752362727
22 0.716 0.480 8 93786255 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs886037774
rs886037774
LPL
7 0.882 0.120 8 19955993 missense variant T/C snv 0.700 0
dbSNP: rs886037775
rs886037775
LPL
7 0.882 0.120 8 19960948 missense variant A/T snv 0.700 0
dbSNP: rs17107315
rs17107315
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.100 0.889 18 2001 2020
dbSNP: rs111033565
rs111033565
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.100 0.800 10 2000 2020
dbSNP: rs267606982
rs267606982
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.100 0.800 10 2000 2020
dbSNP: rs1223231582
rs1223231582
24 0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06 0.060 1.000 6 2001 2011
dbSNP: rs111033567
rs111033567
3 0.882 0.040 7 142750582 missense variant A/G snv 0.040 1.000 4 2000 2020
dbSNP: rs199769221
rs199769221
8 0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 0.040 1.000 4 1997 1999
dbSNP: rs202003805
rs202003805
6 0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 0.040 1.000 4 2000 2010
dbSNP: rs777418530
rs777418530
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.040 1.000 4 2002 2020