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: rs1004212
rs1004212
2 14 78714883 synonymous variant C/G;T snv 8.0E-06; 0.15 0.010 1.000 1 2011 2011
dbSNP: rs11178999
rs11178999
1 12 71939790 intron variant G/A snv 0.27 0.010 1.000 1 2019 2019
dbSNP: rs11617488
rs11617488
1 13 21619823 intergenic variant A/G snv 0.27 0.010 1.000 1 2012 2012
dbSNP: rs12765063
rs12765063
2 10 35127641 intron variant G/A snv 0.14 0.010 1.000 1 2018 2018
dbSNP: rs17110451
rs17110451
1 12 71930054 downstream gene variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs2161961
rs2161961
3 18 11774501 intron variant A/G snv 0.31 0.010 1.000 1 2008 2008
dbSNP: rs2261722
rs2261722
1 9 76254665 intron variant G/A snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs402691
rs402691
2 19 53888383 intron variant T/C snv 0.39 0.010 1.000 1 2007 2007
dbSNP: rs4659682
rs4659682
1 1 236518948 intron variant A/G snv 0.62 0.010 1.000 1 2012 2012
dbSNP: rs591556
rs591556
1 11 18039853 intron variant T/C snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs6736017
rs6736017
4 2 231108702 missense variant T/C snv 6.3E-03 2.5E-02 0.010 1.000 1 2019 2019
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2014 2014
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.080 1.000 8 2006 2014
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2017 2017
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2017 2017
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: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.060 1.000 6 2002 2018
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs2236225
rs2236225
52 0.614 0.640 14 64442127 missense variant G/A snv 0.44 0.38 0.010 1.000 1 2017 2017
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.020 1.000 2 2012 2016
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.020 1.000 2 2007 2015
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.020 1.000 2 2006 2018
dbSNP: rs6277
rs6277
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.020 1.000 2 2009 2010
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2013 2013