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: rs10790162
rs10790162
7 0.882 0.160 11 116768388 intron variant A/G;T snv 0.93 0.010 1.000 1 2017 2017
dbSNP: rs11932595
rs11932595
12 0.827 0.160 4 55457430 intron variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs972283
rs972283
3 1.000 0.080 7 130782095 intergenic variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1028728
rs1028728
3 0.925 0.040 13 37599679 upstream gene variant A/T snv 0.20 0.010 1.000 1 2011 2011
dbSNP: rs2293869
rs2293869
RP1
1 8 54626835 missense variant A/T snv 0.34 0.33 0.010 1.000 1 2003 2003
dbSNP: rs10911205
rs10911205
1 1 183040142 intron variant C/A snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs11773845
rs11773845
4 0.925 0.120 7 116551247 intron variant C/A snv 0.53 0.010 1.000 1 2018 2018
dbSNP: rs324420
rs324420
48 0.637 0.440 1 46405089 missense variant C/A snv 0.24 0.26 0.010 1.000 1 2009 2009
dbSNP: rs17514846
rs17514846
7 0.882 0.120 15 90873320 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs6074
rs6074
1 15 58568764 synonymous variant C/A;G snv 0.19; 2.8E-05 0.010 1.000 1 2013 2013
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: 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: rs121918393
rs121918393
6 0.851 0.120 19 44908756 missense variant C/A;T snv 1.3E-05; 9.0E-05 0.010 1.000 1 2001 2001
dbSNP: rs1414423445
rs1414423445
1 19 4171402 stop gained C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs4846913
rs4846913
4 1.000 0.120 1 230158968 intron variant C/A;T snv 0.010 1.000 1 2016 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: 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: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.020 1.000 2 2006 2013
dbSNP: rs3812316
rs3812316
14 0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02 0.020 1.000 2 2014 2014
dbSNP: rs738409
rs738409
88 0.557 0.720 22 43928847 missense variant C/G snv 0.28 0.22 0.020 1.000 2 2011 2012
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: rs1800795
rs1800795
140 0.494 0.840 7 22727026 intron variant C/G snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2006 2006
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: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2010 2015