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: rs10276782
rs10276782
1 1.000 0.040 7 24765621 regulatory region variant C/T snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs11781551
rs11781551
1 1.000 0.040 8 122395852 intergenic variant G/A snv 0.40 0.800 1.000 1 2011 2011
dbSNP: rs17045031
rs17045031
1 1.000 0.040 3 66717940 intergenic variant G/A snv 0.10 0.800 1.000 1 2011 2011
dbSNP: rs562020
rs562020
KL
1 1.000 0.040 13 33017932 intron variant A/G snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs567170
rs567170
KL
1 1.000 0.040 13 33043649 intron variant C/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs6601530
rs6601530
1 1.000 0.040 8 10813762 intron variant G/A snv 0.61 0.800 1.000 1 2011 2011
dbSNP: rs747885829
rs747885829
1 1.000 0.040 1 247423957 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs749582333
rs749582333
2 0.925 0.040 11 89340157 frameshift variant G/- delins 0.020 1.000 2 2016 2017
dbSNP: rs13447720
rs13447720
2 0.925 0.040 11 94432160 intron variant T/C snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs138227502
rs138227502
2 0.925 0.040 3 186853221 missense variant C/T snv 1.8E-04 5.6E-04 0.010 1.000 1 2017 2017
dbSNP: rs4142986
rs4142986
2 0.925 0.040 9 99052344 intron variant C/A;G;T snv 1.1E-04; 0.75; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4552883
rs4552883
2 0.925 0.040 8 139234730 regulatory region variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs4901536
rs4901536
2 0.925 0.080 14 54733816 intron variant T/C snv 0.67 0.700 1.000 1 2012 2012
dbSNP: rs495392
rs495392
KL
2 1.000 0.040 13 33018055 intron variant C/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs499952
rs499952
2 0.925 0.040 11 94449826 intron variant G/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs6918289
rs6918289
2 0.925 0.040 6 41134089 intron variant G/T snv 9.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs7177922
rs7177922
2 0.925 0.040 15 33616418 intron variant G/A snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs750996166
rs750996166
2 0.925 0.040 1 161041409 stop gained G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs767523236
rs767523236
MPO
2 0.925 0.040 17 58279033 missense variant T/C snv 4.1E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs769442590
rs769442590
LPL
2 0.925 0.040 8 19960927 missense variant A/C;G snv 1.6E-05 0.010 1.000 1 2009 2009
dbSNP: rs915014
rs915014
2 0.925 0.040 1 11789412 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1056515
rs1056515
3 0.882 0.040 1 163143470 3 prime UTR variant G/T snv 0.37 0.010 1.000 1 2019 2019
dbSNP: rs12347433
rs12347433
3 0.882 0.040 9 115035318 synonymous variant T/C snv 0.23 0.21 0.010 1.000 1 2011 2011
dbSNP: rs1403934301
rs1403934301
3 0.882 0.120 17 7631317 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1490867890
rs1490867890
3 0.882 0.080 1 150579475 missense variant G/A;C snv 0.010 1.000 1 2015 2015