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: rs121434254
rs121434254
6 0.807 0.200 21 44289773 stop gained C/A;T snv 7.5E-04 0.010 1.000 1 2001 2001
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2005 2005
dbSNP: rs1149222
rs1149222
1 1.000 0.080 7 87444459 intron variant G/T snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2008 2008
dbSNP: rs31672
rs31672
1 1.000 0.080 7 87430383 intron variant C/T snv 0.67 0.010 1.000 1 2008 2008
dbSNP: rs17268364
rs17268364
2 0.925 0.200 2 203913095 intergenic variant G/A snv 0.41 0.010 1.000 1 2009 2009
dbSNP: rs2395148
rs2395148
3 0.882 0.200 6 32353777 intron variant G/T snv 4.6E-02 0.800 1.000 1 2009 2009
dbSNP: rs2856683
rs2856683
5 0.827 0.320 6 32687441 regulatory region variant T/A;C;G snv 0.25 0.800 1.000 1 2009 2009
dbSNP: rs3135363
rs3135363
8 0.776 0.360 6 32421871 intergenic variant A/G snv 0.24 0.800 1.000 1 2009 2009
dbSNP: rs3793336
rs3793336
1 1.000 0.080 7 151065784 intron variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs4679904
rs4679904
2 0.925 0.080 3 160623108 intergenic variant C/G;T snv 0.800 1.000 1 2009 2009
dbSNP: rs9357152
rs9357152
5 0.827 0.240 6 32697183 regulatory region variant A/G snv 0.24 0.800 1.000 1 2009 2009
dbSNP: rs3790567
rs3790567
4 0.851 0.240 1 67356694 intron variant A/G snv 0.61 0.800 1.000 2 2009 2010
dbSNP: rs6441286
rs6441286
2 0.925 0.080 3 160011091 intron variant T/G snv 0.36 0.800 1.000 2 2009 2010
dbSNP: rs17139244
rs17139244
1 1.000 0.080 16 6055212 intron variant A/G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6500742
rs6500742
1 1.000 0.080 16 6059220 non coding transcript exon variant T/C snv 0.54 0.010 1.000 1 2010 2010
dbSNP: rs1003643
rs1003643
1 1.000 0.080 22 39280489 downstream gene variant T/G snv 0.34 0.700 1.000 1 2011 2011
dbSNP: rs1003644
rs1003644
1 1.000 0.080 22 39280739 downstream gene variant G/A snv 0.31 0.700 1.000 1 2011 2011
dbSNP: rs10174098
rs10174098
3 0.882 0.200 2 186628015 intron variant G/A snv 0.62 0.010 1.000 1 2011 2011
dbSNP: rs10892294
rs10892294
1 1.000 0.080 11 118796648 downstream gene variant G/C snv 0.19 0.700 1.000 1 2011 2011
dbSNP: rs10931468
rs10931468
2 0.925 0.080 2 190673836 intron variant C/A;G;T snv 0.800 1.000 1 2011 2011
dbSNP: rs11117432
rs11117432
4 0.851 0.200 16 85985665 upstream gene variant G/A snv 0.15 0.800 1.000 1 2011 2011
dbSNP: rs11209050
rs11209050
1 1.000 0.080 1 67326053 intron variant A/C snv 0.68 0.700 1.000 1 2011 2011
dbSNP: rs11655972
rs11655972
1 1.000 0.080 17 39250819 downstream gene variant C/T snv 0.78 0.700 1.000 1 2011 2011
dbSNP: rs12134279
rs12134279
4 0.925 0.080 1 197812068 regulatory region variant C/T snv 0.17 0.800 1.000 1 2011 2011