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: rs2284746
rs2284746
6 1 16980180 intron variant C/A;G snv 0.700 1.000 6 2010 2019
dbSNP: rs11205277
rs11205277
5 1.000 0.120 1 149920979 upstream gene variant A/C;G;T snv 0.700 1.000 5 2008 2019
dbSNP: rs4369779
rs4369779
1 18 23155444 intron variant T/A;C snv 0.700 1.000 5 2014 2019
dbSNP: rs11107116
rs11107116
3 1.000 0.080 12 93584728 downstream gene variant G/A;T snv 0.700 1.000 4 2008 2019
dbSNP: rs1490384
rs1490384
4 6 126530014 intron variant C/G;T snv 0.700 1.000 4 2010 2019
dbSNP: rs2079795
rs2079795
3 17 61419288 regulatory region variant T/A;C snv 0.700 1.000 4 2010 2019
dbSNP: rs7319045
rs7319045
2 13 91372320 intergenic variant A/G;T snv 0.700 1.000 4 2010 2019
dbSNP: rs9428104
rs9428104
2 1 118312964 intergenic variant A/G;T snv 0.700 1.000 4 2010 2019
dbSNP: rs1265097
rs1265097
1 6 31138682 missense variant C/A;T snv 0.13; 4.0E-06 0.700 1.000 3 2014 2019
dbSNP: rs1351394
rs1351394
5 12 65958046 3 prime UTR variant T/C;G snv 0.700 1.000 3 2010 2019
dbSNP: rs17511102
rs17511102
3 2 37733470 intron variant A/G;T snv 0.700 1.000 3 2010 2019
dbSNP: rs1884897
rs1884897
5 20 6632185 regulatory region variant A/G;T snv 0.700 1.000 3 2014 2019
dbSNP: rs2145272
rs2145272
8 20 6645571 intergenic variant G/A;T snv 0.700 1.000 3 2010 2019
dbSNP: rs28929474
rs28929474
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.700 1.000 3 2017 2019
dbSNP: rs41271299
rs41271299
ID4
3 6 19839184 intron variant C/A;G;T snv 0.700 1.000 3 2017 2019
dbSNP: rs4800148
rs4800148
4 18 23144364 intron variant G/A;C snv 0.700 1.000 3 2008 2019
dbSNP: rs4842838
rs4842838
3 15 83913372 missense variant G/A;T snv 1.6E-05; 0.61 0.700 1.000 3 2009 2019
dbSNP: rs526896
rs526896
2 5 135021015 intergenic variant T/A;G snv 0.700 1.000 3 2010 2015
dbSNP: rs5742915
rs5742915
PML
7 0.925 0.080 15 74044292 missense variant T/C;G snv 0.35; 4.0E-06 0.700 1.000 3 2010 2019
dbSNP: rs6684205
rs6684205
3 1 218436360 intron variant A/G;T snv 0.700 1.000 3 2010 2019
dbSNP: rs7214743
rs7214743
1 17 61420691 intergenic variant A/G;T snv 0.700 1.000 3 2018 2019
dbSNP: rs757608
rs757608
4 17 61419916 regulatory region variant A/G;T snv 0.700 1.000 3 2008 2019
dbSNP: rs7697556
rs7697556
4 4 72649596 intergenic variant T/A;C snv 0.700 1.000 3 2010 2019
dbSNP: rs10037512
rs10037512
3 5 89058858 intron variant T/A;C snv 0.700 1.000 2 2010 2015
dbSNP: rs1046934
rs1046934
4 1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06 0.700 1.000 2 2010 2019