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: rs2273535
rs2273535
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2004 2004
dbSNP: rs76032516
rs76032516
2 0.925 0.120 11 96097550 intron variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs80357115
rs80357115
8 0.790 0.200 17 43092597 stop gained A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.070 0.857 7 2010 2014
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.060 1.000 6 2009 2018
dbSNP: rs2070074
rs2070074
12 0.742 0.360 9 34649445 missense variant A/G snv 9.2E-02 7.4E-02 0.050 0.800 5 1998 2003
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.020 1.000 2 2014 2016
dbSNP: rs876658657
rs876658657
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.020 1.000 2 2015 2019
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2016 2016
dbSNP: rs1057156
rs1057156
2 0.925 0.120 3 128081228 3 prime UTR variant A/G snv 0.22 0.23 0.010 1.000 1 2019 2019
dbSNP: rs10788679
rs10788679
2 0.925 0.120 1 17590467 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs1128503
rs1128503
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.010 1.000 1 2013 2013
dbSNP: rs11782652
rs11782652
4 0.851 0.120 8 81741409 intron variant A/G snv 6.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs13281615
rs13281615
18 0.716 0.360 8 127343372 intron variant A/G snv 0.43 0.010 < 0.001 1 2017 2017
dbSNP: rs146314922
rs146314922
2 0.925 0.120 19 54982828 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1467465
rs1467465
7 0.827 0.160 1 27884892 non coding transcript exon variant A/G snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs1469713
rs1469713
7 0.827 0.160 19 19417997 intron variant A/G snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs149652370
rs149652370
2 0.925 0.120 3 128084115 non coding transcript exon variant A/G snv 1.3E-04 0.010 1.000 1 2019 2019
dbSNP: rs1516982
rs1516982
3 0.882 0.120 8 128521400 intron variant A/G snv 0.16 0.010 1.000 1 2012 2012
dbSNP: rs17251221
rs17251221
18 0.724 0.360 3 122274400 intron variant A/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs17401966
rs17401966
7 0.790 0.280 1 10325413 intron variant A/G snv 0.24 0.010 1.000 1 2015 2015
dbSNP: rs17702471
rs17702471
2 0.925 0.120 13 93224864 upstream gene variant A/G snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs181206
rs181206
16 0.742 0.440 16 28502082 missense variant A/G snv 0.28 0.24 0.010 1.000 1 2016 2016
dbSNP: rs1950902
rs1950902
11 0.776 0.240 14 64415662 missense variant A/G snv 0.83 0.83 0.010 1.000 1 2014 2014