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: rs11676922
rs11676922
4 0.925 0.160 2 100190478 intron variant T/A snv 0.51 0.700 1.000 1 2011 2011
dbSNP: rs221781
rs221781
4 0.882 7 100698285 upstream gene variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs17266594
rs17266594
7 0.807 0.280 4 101829765 intron variant T/C snv 0.25 0.27 0.010 1.000 1 2017 2017
dbSNP: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs3733197
rs3733197
13 0.742 0.320 4 101918130 missense variant G/A snv 0.31 0.30 0.010 1.000 1 2017 2017
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.710 1.000 2 2011 2013
dbSNP: rs2075184
rs2075184
14 0.724 0.240 2 102464132 intergenic variant T/C snv 0.78 0.700 1.000 1 2015 2015
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2019 2019
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2003 2003
dbSNP: rs26232
rs26232
4 0.925 0.160 5 103261019 intron variant C/T snv 0.30 0.700 1.000 1 2011 2011
dbSNP: rs391851
rs391851
4 0.882 5 103342219 intergenic variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1320344
rs1320344
4 0.882 12 103493699 intron variant A/G snv 0.64 0.700 1.000 1 2019 2019
dbSNP: rs34536443
rs34536443
25 0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02 0.750 0.833 6 2013 2019
dbSNP: rs35018800
rs35018800
9 0.790 0.160 19 10354167 missense variant G/A snv 4.6E-03 4.9E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs55882956
rs55882956
1 19 10359243 missense variant G/A;C snv 7.2E-03; 4.1E-06 0.010 1.000 1 2019 2019
dbSNP: rs12720356
rs12720356
12 0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs62131887
rs62131887
14 0.724 0.240 19 10476920 intergenic variant C/T snv 0.37 0.700 1.000 1 2015 2015
dbSNP: rs10444776
rs10444776
4 0.882 14 105647030 upstream gene variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1223438908
rs1223438908
2 1.000 0.120 3 105681480 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs752455542
rs752455542
2 1.000 0.120 3 105681740 missense variant T/G snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs2305035
rs2305035
2 1.000 0.080 3 105720182 synonymous variant G/A snv 0.22 0.21 0.010 1.000 1 2005 2005
dbSNP: rs9657904
rs9657904
3 0.925 0.160 3 105867870 intron variant T/A;C snv 0.010 < 0.001 1 2012 2012
dbSNP: rs548234
rs548234
11 0.763 0.360 6 106120159 intron variant C/T snv 0.76 0.700 1.000 1 2011 2011
dbSNP: rs1921445
rs1921445
4 0.882 3 106229671 intergenic variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11839053
rs11839053
14 0.724 0.240 13 106410694 intergenic variant T/C snv 7.0E-02 0.700 1.000 1 2015 2015