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: rs1132312
rs1132312
1 1.000 0.040 1 15518120 missense variant A/C;G;T snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs139635080
rs139635080
1 1.000 0.040 9 33798602 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs142907823
rs142907823
1 1.000 0.040 1 12188800 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1451659304
rs1451659304
2 1.000 0.040 16 868990 missense variant A/C snv 0.010 1.000 1 2014 2014
dbSNP: rs146966861
rs146966861
1 1.000 0.040 9 33797993 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs497078
rs497078
2 0.925 0.040 1 15440540 synonymous variant C/A;T snv 3.7E-03; 9.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs5707
rs5707
REN
2 1.000 0.040 1 204160543 intron variant A/C;G;T snv 0.25; 2.0E-05; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs5743795
rs5743795
1 1.000 0.040 4 38830874 intron variant C/T snv 0.14 0.010 1.000 1 2015 2015
dbSNP: rs752688735
rs752688735
2 0.925 0.040 7 142752547 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs756271986
rs756271986
2 0.925 0.040 7 142773430 missense variant GC/AT mnv 0.010 1.000 1 2011 2011
dbSNP: rs764176833
rs764176833
2 0.925 0.040 7 142773430 missense variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs778574118
rs778574118
1 1.000 0.040 10 113721138 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs7057398
rs7057398
5 0.827 0.080 X 106901299 intron variant T/C snv 0.41 0.020 1.000 2 2018 2020
dbSNP: rs1052571
rs1052571
4 0.882 0.080 1 15524118 missense variant G/A snv 0.50 0.59 0.010 1.000 1 2017 2017
dbSNP: rs111033565
rs111033565
11 0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05 0.030 1.000 3 2006 2012
dbSNP: rs267606982
rs267606982
11 0.742 0.120 7 142751938 missense variant GC/AT mnv 0.030 1.000 3 2006 2012
dbSNP: rs777418530
rs777418530
10 0.763 0.120 16 84845883 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2005 2008
dbSNP: rs145657341
rs145657341
LPL
3 0.925 0.120 8 19951811 missense variant G/A snv 1.7E-04 7.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs1490931437
rs1490931437
2 0.925 0.120 17 7673260 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs371282890
rs371282890
LPL
6 0.827 0.120 8 19955900 missense variant C/G snv 1.1E-04 6.3E-05 0.010 1.000 1 2014 2014
dbSNP: rs773891125
rs773891125
LPL
6 0.827 0.120 8 19955896 frameshift variant CT/- delins 0.010 1.000 1 2014 2014
dbSNP: rs61734659
rs61734659
8 0.790 0.160 7 142774035 missense variant G/A snv 1.4E-02 0.020 1.000 2 2009 2011
dbSNP: rs748405415
rs748405415
8 0.790 0.160 7 142773993 stop gained G/A;T snv 0.020 1.000 2 2009 2011
dbSNP: rs12688220
rs12688220
5 0.827 0.200 X 107001537 upstream gene variant C/T snv 0.19 0.020 1.000 2 2018 2020
dbSNP: rs4251961
rs4251961
10 0.763 0.200 2 113116890 intron variant T/C snv 0.29 0.010 1.000 1 2018 2018