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: rs227731
rs227731
4 0.882 0.120 17 56695877 intergenic variant T/A;G snv 0.700 1.000 3 2017 2018
dbSNP: rs104894110
rs104894110
8 0.776 0.280 9 97854108 missense variant C/T snv 0.020 1.000 2 1998 2002
dbSNP: rs12543318
rs12543318
4 0.882 0.120 8 87856112 intergenic variant C/A snv 0.68 0.700 1.000 2 2017 2017
dbSNP: rs13041247
rs13041247
5 0.851 0.200 20 40640434 regulatory region variant T/C snv 0.36 0.710 0.500 2 2010 2015
dbSNP: rs4783099
rs4783099
6 0.827 0.200 16 84907723 3 prime UTR variant C/T snv 0.37 0.020 1.000 2 2011 2017
dbSNP: rs642961
rs642961
14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.020 1.000 2 2010 2014
dbSNP: rs7078160
rs7078160
4 0.851 0.120 10 117068049 intron variant G/A snv 0.19 0.700 1.000 2 2015 2018
dbSNP: rs10130587
rs10130587
5 0.851 0.200 14 53952392 intron variant G/C snv 0.45 0.010 1.000 1 2018 2018
dbSNP: rs10133673
rs10133673
2 0.925 0.120 14 37068147 intron variant T/C snv 2.8E-02 0.700 1.000 1 2017 2017
dbSNP: rs10242177
rs10242177
1 1.000 0.120 7 156369656 intergenic variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1038294
rs1038294
2 0.925 0.120 3 99784884 intron variant A/G snv 0.82 0.700 1.000 1 2017 2017
dbSNP: rs10462065
rs10462065
2 0.925 0.120 5 44068744 upstream gene variant C/A snv 8.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs104893810
rs104893810
7 0.790 0.360 3 30691477 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs10512248
rs10512248
4 0.925 0.120 9 95497421 intron variant T/A;G snv 0.700 1.000 1 2017 2017
dbSNP: rs10808812
rs10808812
2 0.925 0.120 8 76593073 intron variant T/C snv 0.23 0.700 1.000 1 2017 2017
dbSNP: rs10886040
rs10886040
3 0.882 0.120 10 117086783 intron variant C/G snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs11066150
rs11066150
2 0.925 0.120 12 112080999 intron variant G/A snv 1.3E-02 0.700 1.000 1 2017 2017
dbSNP: rs11072494
rs11072494
2 0.925 0.120 15 74596822 3 prime UTR variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs112800917
rs112800917
2 0.925 0.120 2 219743055 intergenic variant CACAGAAT/- delins 0.54 0.700 1.000 1 2017 2017
dbSNP: rs113691307
rs113691307
1 1.000 0.120 2 81801266 intergenic variant C/T snv 6.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs1139
rs1139
4 0.851 0.200 2 179745354 intron variant C/T snv 0.22 0.010 1.000 1 2011 2011
dbSNP: rs11466285
rs11466285
5 0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs11582254
rs11582254
2 0.925 0.120 1 19691584 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs11597348
rs11597348
1 1.000 0.120 10 96354046 intron variant A/T snv 7.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs11624283
rs11624283
3 0.882 0.200 14 105124634 downstream gene variant A/G snv 0.13 0.010 1.000 1 2010 2010