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: rs1555565492
rs1555565492
18 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
dbSNP: rs11624704
rs11624704
3 1.000 0.080 14 78319734 intron variant A/C snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs806379
rs806379
2 1.000 0.040 6 88151548 intron variant A/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs10078866
rs10078866
2 1.000 0.080 5 175445317 upstream gene variant A/G snv 5.2E-02 0.010 1.000 1 2015 2015
dbSNP: rs11617488
rs11617488
1 13 21619823 intergenic variant A/G snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs12364283
rs12364283
3 0.925 0.080 11 113476233 upstream gene variant A/G snv 5.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs17110451
rs17110451
1 12 71930054 downstream gene variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs1799971
rs1799971
95 0.559 0.600 6 154039662 missense variant A/G snv 0.19 0.12 0.010 1.000 1 2015 2015
dbSNP: rs2030324
rs2030324
6 0.827 0.120 11 27705368 intron variant A/G snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs2161961
rs2161961
3 18 11774501 intron variant A/G snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs4659682
rs4659682
1 1 236518948 intron variant A/G snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs1565922395
rs1565922395
5 0.925 12 79353602 missense variant A/G snv 0.700 0
dbSNP: rs265981
rs265981
3 0.925 0.080 5 175443899 5 prime UTR variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.010 1.000 1 2015 2015
dbSNP: rs4290270
rs4290270
17 0.724 0.320 12 72022455 synonymous variant A/T snv 0.57 0.55 0.010 1.000 1 2009 2009
dbSNP: rs1131691771
rs1131691771
18 0.807 0.160 6 78958469 splice donor variant ACTT/- delins 0.700 0
dbSNP: rs1565962725
rs1565962725
5 0.925 12 79448953 missense variant C/A snv 0.700 0
dbSNP: rs594242
rs594242
3 1.000 0.040 13 46883917 intron variant C/A;G snv 0.010 1.000 1 2006 2006
dbSNP: rs1473473
rs1473473
4 0.925 0.080 12 72010598 intron variant C/A;T snv 0.81 0.010 1.000 1 2013 2013
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs75634836
rs75634836
11 0.807 0.160 13 46835532 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs2110267
rs2110267
3 1.000 0.040 7 153838604 intergenic variant C/G snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs886041097
rs886041097
9 0.882 0.160 4 139386152 stop gained C/G snv 0.700 0
dbSNP: rs1004212
rs1004212
2 14 78714883 synonymous variant C/G;T snv 8.0E-06; 0.15 0.010 1.000 1 2011 2011