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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.841 44 1999 2019
dbSNP: rs1625579
rs1625579
14 0.763 0.160 1 98037378 intron variant G/T snv 0.78 0.900 0.893 28 2011 2019
dbSNP: rs821616
rs821616
13 0.752 0.200 1 232008852 missense variant A/T snv 0.26 0.29 0.100 0.818 22 2005 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.684 19 2005 2020
dbSNP: rs821597
rs821597
1 1.000 0.040 1 231966518 intron variant G/A snv 0.49 0.080 0.875 8 2005 2018
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.760 1.000 7 2008 2017
dbSNP: rs6675281
rs6675281
7 0.827 0.080 1 231818355 missense variant C/T snv 0.11 0.14 0.060 1.000 6 2008 2019
dbSNP: rs10489202
rs10489202
2 0.925 0.080 1 167933841 intron variant G/T snv 0.20 0.850 0.800 5 2011 2018
dbSNP: rs3738401
rs3738401
4 0.882 0.080 1 231694549 missense variant G/A snv 0.30 0.26 0.050 0.600 5 2006 2018
dbSNP: rs7523273
rs7523273
1 1.000 0.040 1 207803738 non coding transcript exon variant A/G snv 0.30 0.700 1.000 5 2014 2019
dbSNP: rs1200746244
rs1200746244
11 0.807 0.080 1 11801287 missense variant C/T snv 4.0E-06 7.0E-06 0.040 1.000 4 2008 2017
dbSNP: rs1498232
rs1498232
2 1.000 0.040 1 29961104 regulatory region variant T/C snv 0.53 0.700 1.000 4 2014 2019
dbSNP: rs1805054
rs1805054
17 0.708 0.200 1 19666020 synonymous variant C/T snv 0.15; 8.0E-06 0.16 0.040 0.250 4 1999 2012
dbSNP: rs4648845
rs4648845
1 1.000 0.040 1 2455662 intron variant C/G;T snv 0.700 1.000 4 2014 2019
dbSNP: rs4950928
rs4950928
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.040 1.000 4 2009 2012
dbSNP: rs6670165
rs6670165
1 1.000 0.040 1 177310985 regulatory region variant C/T snv 0.18 0.700 1.000 4 2014 2019
dbSNP: rs6691840
rs6691840
5 0.827 0.120 1 36859876 missense variant A/C;G snv 0.27; 9.2E-05 0.040 0.750 4 2002 2010
dbSNP: rs10798059
rs10798059
2 0.925 0.080 1 186830478 intron variant G/A snv 0.40 0.030 0.667 3 2009 2019
dbSNP: rs10803138
rs10803138
1 1.000 0.040 1 243391917 intron variant A/G snv 0.77 0.700 1.000 3 2017 2019
dbSNP: rs11210195
rs11210195
2 1.000 0.040 1 73283600 intergenic variant C/T snv 0.44 0.700 1.000 3 2017 2019
dbSNP: rs11210892
rs11210892
3 1.000 0.040 1 43634413 intergenic variant G/A snv 0.51 0.700 1.000 3 2014 2019
dbSNP: rs1198588
rs1198588
2 1.000 0.040 1 98087276 intergenic variant A/T snv 0.78 0.810 1.000 3 2012 2017
dbSNP: rs12129573
rs12129573
2 0.925 0.040 1 73302683 upstream gene variant C/A snv 0.31 0.700 1.000 3 2014 2019
dbSNP: rs12139672
rs12139672
1 1.000 0.040 1 190971497 intron variant A/G snv 0.19 0.700 1.000 3 2015 2019
dbSNP: rs140505938
rs140505938
1 1.000 0.040 1 150059494 intron variant C/T snv 0.11 0.700 1.000 3 2014 2018