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: rs114181198
rs114181198
1 1.000 0.040 2 183618431 intergenic variant C/A snv 0.700 1.000 1 2019 2019
dbSNP: rs11542313
rs11542313
1 1.000 0.040 2 170822115 synonymous variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs11591402
rs11591402
1 1.000 0.040 10 104987596 intron variant T/A;G snv 0.700 1.000 1 2019 2019
dbSNP: rs11789399
rs11789399
5 0.882 0.040 9 118597008 intergenic variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs12036759
rs12036759
1 1.000 0.040 1 232789695 regulatory region variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12042052
rs12042052
1 1.000 0.040 1 232799973 upstream gene variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121909323
rs121909323
8 0.790 0.160 19 13277122 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs121912777
rs121912777
5 0.851 0.080 16 55823661 missense variant C/A;G;T snv 4.8E-05; 1.2E-05; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs121918695
rs121918695
3 0.882 0.080 3 24127696 missense variant C/T snv 4.0E-06 0.010 1.000 1 1994 1994
dbSNP: rs1229761
rs1229761
1 1.000 0.040 7 114583668 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs12443954
rs12443954
5 0.851 0.040 16 89675088 intron variant A/C;G snv 0.800 1.000 1 2013 2013
dbSNP: rs12671878
rs12671878
1 1.000 0.040 7 153861864 intergenic variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs130058
rs130058
8 0.790 0.120 6 77463564 5 prime UTR variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1329650
rs1329650
6 0.882 0.080 10 91588363 regulatory region variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1330598
rs1330598
1 1.000 0.040 13 61358998 regulatory region variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs13332522
rs13332522
1 1.000 0.040 16 5779203 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1344706
rs1344706
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1355368
rs1355368
1 1.000 0.040 4 61914104 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs140700
rs140700
2 0.925 0.040 17 30216371 intron variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs142458453
rs142458453
1 1.000 0.040 12 31377392 downstream gene variant TAAATAAA/-;TAAA;TAAATAAATAAA;TAAATAAATAAATAAA;TAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs1464807
rs1464807
1 1.000 0.040 7 96733032 intergenic variant G/A;T snv 0.700 1.000 1 2010 2010
dbSNP: rs1476535
rs1476535
2 0.925 0.040 7 114430980 intron variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1555447569
rs1555447569
4 0.851 0.160 15 76471314 frameshift variant ATTG/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1616905
rs1616905
1 1.000 0.040 13 90718584 regulatory region variant T/C snv 0.010 1.000 1 2011 2011