Source: ALL
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: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.700 1.000 1 2011 2011
dbSNP: rs17782313
rs17782313
34 0.683 0.480 18 60183864 intergenic variant T/C snv 0.24 0.700 1.000 1 2010 2010
dbSNP: rs4148323
rs4148323
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.700 1.000 1 2010 2010
dbSNP: rs143383
rs143383
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.700 1.000 1 2008 2008
dbSNP: rs143384
rs143384
17 0.827 0.200 20 35437976 5 prime UTR variant G/A snv 0.44 0.700 1.000 1 2010 2010
dbSNP: rs3734254
rs3734254
14 0.752 0.240 6 35427233 3 prime UTR variant C/T snv 0.69 0.700 1.000 1 2011 2011
dbSNP: rs6570507
rs6570507
13 0.827 0.240 6 142358435 intron variant G/A snv 0.47 0.700 1.000 2 2009 2010
dbSNP: rs864745
rs864745
12 0.763 0.320 7 28140937 intron variant T/C snv 0.41 0.700 1.000 1 2011 2011
dbSNP: rs3791679
rs3791679
11 0.925 0.120 2 55869757 intron variant A/G snv 0.20 0.700 1.000 3 2008 2013
dbSNP: rs2247056
rs2247056
11 0.882 0.160 6 31297713 intron variant T/C snv 0.80 0.700 1.000 1 2013 2013
dbSNP: rs185819
rs185819
10 0.851 0.200 6 32082290 missense variant T/A;C;G snv 8.2E-06; 0.58; 4.1E-06 0.700 1.000 1 2008 2008
dbSNP: rs2516448
rs2516448
10 0.827 0.120 6 31422633 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs11205303
rs11205303
9 0.882 0.120 1 149934520 missense variant T/C snv 0.33 0.29 0.700 1.000 1 2013 2013
dbSNP: rs1182188
rs1182188
8 0.827 0.120 7 2830351 intron variant T/C snv 0.26 0.700 1.000 1 2009 2009
dbSNP: rs2145272
rs2145272
8 20 6645571 intergenic variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs35874463
rs35874463
8 0.827 0.120 15 67165360 missense variant A/G snv 4.0E-02 3.4E-02 0.700 1.000 1 2011 2011
dbSNP: rs1042725
rs1042725
7 0.882 0.080 12 65964567 3 prime UTR variant C/T snv 0.48 0.700 1.000 3 2007 2008
dbSNP: rs8756
rs8756
7 0.882 0.200 12 65965972 3 prime UTR variant C/A snv 0.56 0.700 1.000 3 2008 2010
dbSNP: rs7689420
rs7689420
7 0.851 0.080 4 144647200 non coding transcript exon variant T/C snv 0.79 0.700 1.000 2 2010 2013
dbSNP: rs13437082
rs13437082
7 1.000 6 31386783 upstream gene variant C/T snv 0.32 0.700 1.000 1 2009 2009
dbSNP: rs202676
rs202676
7 0.851 0.160 11 49206068 stop lost A/G snv 0.28 0.33 0.700 1.000 1 2011 2011
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 1 2010 2010
dbSNP: rs6569648
rs6569648
7 1.000 0.080 6 130027974 intron variant C/T snv 0.84 0.700 1.000 1 2010 2010
dbSNP: rs7759938
rs7759938
7 0.925 0.120 6 104931079 intron variant C/T snv 0.62 0.700 1.000 1 2010 2010
dbSNP: rs2284746
rs2284746
6 1 16980180 intron variant C/A;G snv 0.700 1.000 3 2010 2013